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1.
Management of pregnancy and childbirth in a patient with glutaric aciduria type II.
Restaino, S, Sala, A, Angelini, M, Zanin, V, Poli, A, Angeli, C, Ferrara, F, Pezzarini, V, Vizzielli, G, Driul, L
Minerva obstetrics and gynecology. 2024;(1):102-106
Abstract
Glutaric aciduria type II (GA II) is a genetic disorder that interferes with the body's ability to break down proteins and fats to produce energy. Signs and symptoms vary greatly depending on the age of onset and severity of the condition. Pregnancy may be a high-risk period in women affected by metabolic disorders, because the mother must guarantee wellness for both her and fetus. A 37-year-old primigravida woman affected by a mild form of GA II presented to our high-risk department. During pregnancy a dietician strictly controlled her diet and nutritional intake. The fetal growth was regular but around the 38th week a polyhydramnios was diagnosed. A modification in carbohydrate intake led to a normal amniotic fluid. Considering the high risk of metabolic decompensation during labor, an elective cesarean section was programmed. The rare disease geneticist gave some indications to follow before, during and after delivery to reduce the risk for the mother. No complications occurred and the patient with her baby was discharged on the third postoperative day. We present a case report and a review of literature. In pregnant women affected by GA II periodical nutritional and obstetrical evaluations are important to monitor maternal condition and fetal growth. Adequate nutrient intake is fundamental to preserve mother and fetus from complications. Elective caesarean section is preferred to reduce metabolic distress during delivery and to avoid the risk of metabolic crisis. Pregnant women with metabolic diseases are increasing, consequently guidelines may be necessary for a better management.
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2.
Dietary Fatty Acids and Inflammation: Focus on the n-6 Series.
Poli, A, Agostoni, C, Visioli, F
International journal of molecular sciences. 2023;(5)
Abstract
Among the polyunsaturated fatty acids (PUFAs), those belonging to the n-3 (or ω3) series, i.e., alpha-linolenic (ALA), eicosapentaenoic (EPA), and docosahexaenoic (DHA) acids have been studied for decades from a pharma-nutritional viewpoint, namely in relation to cardiovascular health. More recent research is focusing on n-6 PUFAs, e.g., linoleic acid (LA), whose levels of consumption are much higher than those of n-3 and that cannot be used "pharmacologically". Perhaps because of this, the biological actions of n-6 PUFAs have not been investigated in details as those of their n-3 counterparts. However, an increasing body of evidence underscores their healthful actions on the cardiovascular system. Among the critiques to n-6 PUFAs and, particularly, LA there is the fact that they are precursors of pro-inflammatory eicosanoids. Hence, the hypothesis posits that we should reduce their intakes precisely to avoid increasing systemic, low-grade inflammation, i.e., one of the major etiological agents in degenerative diseases. In this narrative review, we address the issue of whether n-6 PUFAs are indeed pro-inflammatory, we discuss the most recent evidence of their role(s) in human health and prognosis, and we conclude that adequate intakes of n-6 fatty acids are associated with better cardiovascular health and child development.
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3.
The influence of front-of-pack nutritional labels on eating and purchasing behaviors: a narrative review of the literature.
Penzavecchia, C, Todisco, P, Muzzioli, L, Poli, A, Marangoni, F, Poggiogalle, E, Giusti, AM, Lenzi, A, Pinto, A, Donini, LM
Eating and weight disorders : EWD. 2022;(8):3037-3051
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Abstract
BACKGROUND Front-of-Pack Nutritional Labels are considered a useful tool to help consumers orient themselves in their food choices and direct their behavior toward a healthier diet. FOPNL development and use are part of a framework that includes cognitive, biological, hedonic and cultural aspects, able to affect consumers' eating and purchasing behavior. AIM: Given the complexity of the matter, the aim of this narrative review is to analyze the combination of different factors that drive food choices and eating behaviors and to highlight some aspects that are not fully studied. METHODS The authors conducted the research using a top-down approach at first, followed by a bottom-up approach; starting with general considerations about the purchasing process, gradually narrowing the discussion to a specific sub-population, and finally extending the discussion back to more general reasonings about the direction to adopt in future, or at least to evaluate, for effective communication. RESULTS Biases and attitudes toward food products were found to regularly interfere with buying behavior patterns, making it impossible to standardize an average consumer. This reflects in current research, increasing the complexity of the topic. All determinants influencing food choices are often assessed individually rather than in a synergistic and multidimensional context, while the purchasing scenario is characterized by multiple stimuli to which the consumer is subjected. FOPNLs' impact on perceived healthiness has been studied in different conditions, but some population subgroups have not been sufficiently represented. In particular, the effect of FOPNLs on consumers suffering from eating disorders is understudied and needs further attention. Furthermore, some approaches can be compared to "negative nutrition" or "loss-framed communication", putting nutrients out of context, emphasizing losses more than gains and risking promoting negative feelings in consumers. CONCLUSION Due to the heterogeneity of studies, evidence on what works best in driving people to adopt lasting lifestyle changes is still mixed. Science communicators and policymakers should consider the possibility that a multi-component approach incorporating nutrition information and education may be a key strategy to promote consumers' self-consciousness and to support them in their cognitive efforts toward a healthy and sustainable diet. LEVEL OF EVIDENCE Level V, narrative review.
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Phytosterols, Cholesterol Control, and Cardiovascular Disease.
Poli, A, Marangoni, F, Corsini, A, Manzato, E, Marrocco, W, Martini, D, Medea, G, Visioli, F
Nutrients. 2021;(8)
Abstract
The use of phytosterols (or plant sterols) for the control of plasma cholesterol concentrations has recently gained traction because their efficacy is acknowledged by scientific authorities and leading guidelines. Phytosterols, marketed as supplements or functional foods, are formally classified as food in the European Union, are freely available for purchase, and are frequently used without any health professional advice; therefore, they are often self-prescribed, either inappropriately or in situations in which no significant advantage can be obtained. For this reason, a panel of experts with diverse medical and scientific backgrounds was convened by NFI-Nutrition Foundation of Italy-to critically evaluate and summarize the literature available on the topic, with the goal of providing medical doctors and all health professionals useful information to actively govern the use of phytosterols in the context of plasma cholesterol control. Some practical indications to help professionals identify subjects who will most likely benefit from the use of these products, optimizing the therapeutic outcomes, are also provided. The panel concluded that the use of phytosterols as supplements or functional foods to control Low Density Lipoprotein (LDL) cholesterol levels should be preceded by the assessment of some relevant individual characteristics: cardiovascular risk, lipid profile, correct understanding of how to use these products, and willingness to pay for the treatment.
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Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay.
Poli, A, Schmitt, C, Moulouel, B, Mirmiran, A, Puy, H, Lefèbvre, T, Gouya, L
Metabolites. 2021;(12)
Abstract
Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells. The porphyrins deposition in tissues, including the skin, leads to photosensitivity that is present in all erythropoietic porphyrias. In the bone marrow, heme synthesis is mainly controlled by intracellular labile iron by post-transcriptional regulation: translation of ALAS2 mRNA, the first and rate-limiting enzyme of the pathway, is inhibited when iron availability is low. Moreover, it has been shown that the expression of ferrochelatase (FECH, an iron-sulfur cluster enzyme that inserts iron into protoporphyrin IX to form heme), is regulated by intracellular iron level. Accordingly, there is accumulating evidence that iron status can mitigate disease expression in patients with erythropoietic porphyrias. This article will review the available clinical data on how iron status can modify the symptoms of erythropoietic porphyrias. We will then review the modulation of heme biosynthesis pathway by iron availability in the erythron and its role in erythropoietic porphyrias physiopathology. Finally, we will summarize what is known of FECH interactions with other proteins involved in iron metabolism in the mitochondria.
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Dietary Glycaemic Index Labelling: A Global Perspective.
Barclay, AW, Augustin, LSA, Brighenti, F, Delport, E, Henry, CJ, Sievenpiper, JL, Usic, K, Yuexin, Y, Zurbau, A, Wolever, TMS, et al
Nutrients. 2021;(9)
Abstract
The glycaemic index (GI) is a food metric that ranks the acute impact of available (digestible) carbohydrates on blood glucose. At present, few countries regulate the inclusion of GI on food labels even though the information may assist consumers to manage blood glucose levels. Australia and New Zealand regulate GI claims as nutrition content claims and also recognize the GI Foundation's certified Low GI trademark as an endorsement. The GI Foundation of South Africa endorses foods with low, medium and high GI symbols. In Asia, Singapore's Healthier Choice Symbol has specific provisions for low GI claims. Low GI claims are also permitted on food labels in India. In China, there are no national regulations specific to GI; however, voluntary claims are permitted. In the USA, GI claims are not specifically regulated but are permitted, as they are deemed to fall under general food-labelling provisions. In Canada and the European Union, GI claims are not legal under current food law. Inconsistences in food regulation around the world undermine consumer and health professional confidence and call for harmonization. Global provisions for GI claims/endorsements in food standard codes would be in the best interests of people with diabetes and those at risk.
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Dietary linoleic acid and human health: Focus on cardiovascular and cardiometabolic effects.
Marangoni, F, Agostoni, C, Borghi, C, Catapano, AL, Cena, H, Ghiselli, A, La Vecchia, C, Lercker, G, Manzato, E, Pirillo, A, et al
Atherosclerosis. 2020;:90-98
Abstract
This narrative review aims to discuss the more relevant evidence on the role of linoleic acid (LA), a n-6 essential fatty acid that constitutes the predominant proportion of dietary polyunsaturated fatty acids (PUFA), in cardiovascular health. Although LA can be metabolized into Arachidonic Acid (AA), a 20 carbon PUFA which is the precursor of eicosanoids, including some with proinflammatory or prothrombotic-vasoconstrictor action, the large majority of experimental and clinical studies have assessed the potential benefit of increasing dietary intake of LA. Overall, data from clinical studies and meta-analyses suggest an association between high dietary intakes or tissue levels of n-6 PUFA, and specifically LA, and the improvement of cardiovascular risk (mainly of the plasma lipid profile), as well as long-term glycaemic control and insulin resistance. Most observational data show that elevated/increased dietary intake or tissue levels of LA is associated with a reduced incidence of cardiovascular diseases (mainly coronary artery diseases) and of new onset metabolic syndrome or type 2 diabetes. The effects of LA (or n-6 PUFA) in other physio-pathological areas are less clear. High quality clinical trials are needed to assess both the actual amplitude and the underlying mechanisms of the health effects related to dietary intake of this essential fatty acid.
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Susceptibility to HIV-1 integrase strand transfer inhibitors (INSTIs) in highly treatment-experienced patients who failed an INSTI-based regimen.
Santoro, MM, Fornabaio, C, Malena, M, Galli, L, Poli, A, Menozzi, M, Zazzi, M, White, KL, Castagna, A, ,
International journal of antimicrobial agents. 2020;(1):106027
Abstract
The aim of this study was to characterize the genotypic and phenotypic resistance profile to the integrase strand transfer inhibitor (INSTI) bictegravir (BIC) and other INSTIs in patients who previously failed twice-daily raltegravir (RAL)-based or twice-daily dolutegravir (DTG)-based regimens. Twenty-two samples were collected after failure on an INSTI-based regimen in 17 highly treatment-experienced patients with HIV-1 with multi-drug-resistant virus, recorded in the Italian PRESTIGIO registry. Genotypic resistance mutations and phenotypic susceptibility to INSTIs were detected by GeneSeqIN and PhenoSenseIN assays, respectively (Monogram Biosciences, San Francisco, CA, USA). The primary INSTI resistance substitutions E138A/K, G140S, Y143C/H/R, Q148H and N155H were detected in 14 of 22 samples and were associated with resistance to one or more INSTIs, with G140S+Q148H present in 11 of 22 samples. Of these 14 samples, all showed high levels of resistance to elvitegravir (EVG) and RAL. Two isolates contained L74M, E138K, G140S and Q148H, or L74M, T97A, S119T, E138K, G140S, Y143R and Q148H, and had high-level resistance to all INSTIs, including BIC and DTG. Intermediate resistance was reported for eight of 14 isolates for BIC and nine of 14 isolates for DTG. Overall, for the 14 INSTI-resistant isolates, the median fold-change values in phenotypic susceptibility were: BIC 3.2 [interquartile range (IQR) 0.6-66], DTG 6.3 (IQR 0.8->186), EVG >164 (IQR 2.6->164) and RAL >188 (IQR 2.7->197). In conclusion, the study findings supported the in-vitro activity of BIC and DTG against most isolates derived from highly treatment-experienced patients who failed INSTI regimens.
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AllergoOncology: ultra-low IgE, a potential novel biomarker in cancer-a Position Paper of the European Academy of Allergy and Clinical Immunology (EAACI).
Ferastraoaru, D, Bax, HJ, Bergmann, C, Capron, M, Castells, M, Dombrowicz, D, Fiebiger, E, Gould, HJ, Hartmann, K, Jappe, U, et al
Clinical and translational allergy. 2020;:32
Abstract
Elevated serum IgE levels are associated with allergic disorders, parasitosis and specific immunologic abnormalities. In addition, epidemiological and mechanistic evidence indicates an association between IgE-mediated immune surveillance and protection from tumour growth. Intriguingly, recent studies reveal a correlation between IgE deficiency and increased malignancy risk. This is the first review discussing IgE levels and links to pathological conditions, with special focus on the potential clinical significance of ultra-low serum IgE levels and risk of malignancy. In this Position Paper we discuss: (a) the utility of measuring total IgE levels in the management of allergies, parasitosis, and immunodeficiencies, (b) factors that may influence serum IgE levels, (c) IgE as a marker of different disorders, and d) the relationship between ultra-low IgE levels and malignancy susceptibility. While elevated serum IgE is generally associated with allergic/atopic conditions, very low or absent IgE may hamper anti-tumour surveillance, indicating the importance of a balanced IgE-mediated immune function. Ultra-low IgE may prove to be an unexpected biomarker for cancer risk. Nevertheless, given the early stage of investigations conducted mostly in patients with diseases that influence IgE levels, in-depth mechanistic studies and stratification of malignancy risk based on associated demographic, immunological and clinical co-factors are warranted.
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A randomized Placebo-Controlled Clinical Trial to Evaluate the Medium-Term Effects of Oat Fibers on Human Health: The Beta-Glucan Effects on Lipid Profile, Glycemia and inTestinal Health (BELT) Study.
Cicero, AFG, Fogacci, F, Veronesi, M, Strocchi, E, Grandi, E, Rizzoli, E, Poli, A, Marangoni, F, Borghi, C
Nutrients. 2020;(3)
Abstract
The Beta-glucan Effects on Lipid profile, glycemia and inTestinal health (BELT) Study investigated the effect of 3 g/day oat beta-glucans on plasma lipids, fasting glucose and self-perceived intestinal well-being. The Study was an 8-week, double-blind, placebo-controlled, cross-over randomized clinical trial, enrolling a sample of 83 Italian free-living subjects, adherent to Mediterranean diet, with a moderate hypercholesterolemia and a low cardiovascular risk profile. Beta-glucans reduced mean LDL-Cholesterol (LDL-C) levels from baseline by 12.2% (95%CI: -15.4 to -3.8) after 4 weeks of supplementation and by 15.1% (95%CI: -17.8 to -5.9) after 8 weeks of supplementation (p < 0.01 for both comparison and versus placebo). Between baseline and 4 weeks Total Cholesterol (TC) levels showed an average reduction of 6.5% (95%CI: -10.9 to -1.9) in the beta-glucan sequence; while non-HDL-C plasma concentrations decreased by 11.8% (95%CI: -14.6 to -4.5). Moreover, after 8 weeks of beta-glucan supplementation TC was reduced by 8.9% (95%CI: -12.6 to -2.3) and non-HDL-C levels by 12.1% (95%CI: -15.6 to -5.3). Decreses in TC and non HDL-C were significant also versus placebo (respectively p < 0.05 and p < 0.01 to both follow-up visits). Fasting plasma glucose and self-perceived intestinal well-being were not affected by both beta-glucan and placebo supplementation.