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Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges from neonatal death to mild adult-onset disease with variable hepatic, muscular, neurologic, dermatologic, and cardiac involvement. There is a paucity of literature and clinical and dietary management in GSD IV, and liver transplantation (LT) is described to correct the primary hepatic enzyme defect. Objectives: We herein describe five cases of patients with GSD IV with different ages of onset and outcomes as well as a novel GBE1 variant. Methods: This is a descriptive case series of patients receiving care for GSD IV at Reference Centers for Rare Diseases in Brazil and in the United States of America. Patients were selected based on confirmatory GBE1 genotypes performed after strong clinical suspicion. Results: Pt #1 is a Latin male with the chief complaints of hepatosplenomegaly, failure to thrive, and elevated liver enzymes starting at the age of 5 months. Before LT at the age of two, empirical treatment with corn starch (CS) and high protein therapy was performed with subjective improvement in his overall disposition and liver size. Pt #2 is a 30-month-old Afro-American descent patient with the chief complaints of failure to gain adequate weight, hypotonia, and hepatosplenomegaly at the age of 15 months. Treatment with CS was initiated without overall improvement of the symptoms. Pt #3.1 is a female Latin patient, sister to pt #3.2, with onset of symptoms at the age of 3 months with bloody diarrhea, abdominal distention, and splenomegaly. There was no attempt of treatment with CS. Pt #4 is an 8-year-old male patient of European descent who had his initial evaluation at 12 months, which was remarkable for hepatosplenomegaly, elevated ALT and AST levels, and a moderate dilatation of the left ventricle with normal systolic function that improved after LT. Pt #1, #3.2 and #4 presented with high levels of chitotriosidase. Pt #2 was found to have the novel variant c.826G > C p.(Ala276Pro). Conclusions: GSD IV is a rare disease with different ages of presentation and different cardiac phenotypes, which is associated with high levels of chitotriosidase. Attempts of dietary intervention with CS did not show a clear improvement in our case series.

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BACKGROUND: Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving euglycemia, its impact on the quality of life of patients should be considered. In vitro analyses suggest a longer release of glucose when using sweet manioc starch (SMS). METHODS: We compared the efficacy and safety of the administration of SMS and UCCS during a short-fasting challenge in patients with GSD Ia in a randomized, triple-blind, phase I/II, cross-over study. GSD Ia patients aged ≥ 16 years and treated with UCCS were enrolled. Participants were hospitalized for two consecutive nights, receiving UCCS or SMS in each night. After the administration of the starches, glucose, lactate and insulin levels were measured in 1-h interval throughout the hospitalization period. The procedures were interrupted after 10 h of fasting or in a hypoglycemic episode (< 3.88 mmol/L). RESULTS: Eleven individuals (mean age: 21.6 ± 4.3 years; all presenting body mass index > 25 kg/m2) participated in the study. The average fasting period was 8.2 ± 2.0 h for SMS and 7.7 ± 2.3 h for UCCS (p = 0.04). SMS maintained euglycemia for a greater period over UCCS. Increased lactate concentrations were detected even in absence of hypoglycemia, not being influenced by the different starches investigated (p = 0.17). No significant difference was found in total cholesterol, HDL, triglycerides and uric acid levels in both arms. None of the patients showed severe adverse events. CONCLUSIONS: SMS appears to be non-inferior to UCCS in the maintenance of euglycemia, thus emerging as a promising alternative to the treatment of GSD Ia.

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AIMS: To address the effect of a diet enriched in extra virgin olive oil (EVOO) on maternal metabolic parameters and placental proinflammatory markers in Gestational diabetes mellitus (GDM) patients. METHODS: Pregnant women at 24-28 weeks of gestation were enrolled: 33 GDM patients which were randomly assigned or not to the EVOO-enriched group and 17 healthy controls. Metabolic parameters were determined. Peroxisome proliferator activated receptor (PPAR) γ and PPARα protein expression, expression of microRNA (miR)-130a and miR-518d (which respectively target these PPAR isoforms) and levels of proinflammatory markers were evaluated in term placentas. Matrix metalloproteinases (MMPs) activity was evaluated in term placentas and umbilical cord blood. RESULTS: GDM patients that received the EVOO-enriched diet showed reduced pregnancy weight gain (GDM-EVOO:10.3 ± 0.9, GDM:14.2 ± 1.4, P = .03) and reduced triglyceridemia (GDM-EVOO:231 ± 14, GDM:292 ± 21, P = .02) compared to the non-EVOO-enriched GDM group. In GDM placentas, the EVOO-enriched diet did not regulate PPARγ protein expression or miR-130a expression, but prevented the reduced PPARα protein expression (P = .02 vs GDM) and the increased miR-518d expression (P = .009 vs GDM). Increased proinflammatory markers (interleukin-1ß, tumour necrosis factor-α and nitric oxide overproduction) in GDM placentas were prevented by the EVOO-enriched diet (respectively P = .001, P = .001 and P = .01 vs GDM). MMPs overactivity was prevented in placenta and umbilical cord blood in the EVOO-enriched GDM group (MMP-9: respectively P = .01 and P = .001 vs GDM). CONCLUSIONS: A diet enriched in EVOO in GDM patients reduced maternal triglyceridemia and weight gain and has antiinflammatory properties in placenta and umbilical cord blood, possibly mediated by the regulation of PPAR pathways.

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Nutrition interventions should reflect the state of the art in science and dietetics to meet each patient's requirements. Incorporating new knowledge into individualized food-based nutrition interventions is a major challenge, and health care professionals constantly search for novel approaches through specific and standardized methods. The dynamic macronutrient meal-equivalent menu method involves individuals making informed food choices that match their requirements, schedule, and food availability and affinity, helping them maintain a sense of control and motivation to adhere to a nutrition intervention program. This protocol includes the steps required to prepare a nutrition plan containing equivalent meal options consistent with the patient's needs and preferences. Standard food servings are planned according to population specific dietary guidelines and individual characteristics. Servings are distributed at required mealtimes, and are all equivalent in energy and macronutrient content, providing every patient with interchangeable choices within each mealtime. This empowers individuals to select foods in a guided format whilst adhering to a dietary plan. Acceptable variations for calculated energy and macronutrient content are as follows: protein ±1 g/day, fat ±1 g/day, carbohydrate ±2 g/day, and energy ±15 kcal/day. Following this method, health care professionals can develop individualized nutrition intervention programs that may improve patients' adherence, nutritional status, and health.

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OPINION STATEMENT: Dietary management of heart failure (HF) has largely been focused on sodium and fluid restrictions. Although safety and efficacy of these interventions in HF remain unclear, a daily sodium intake between 2000 and 3000 mg/day appears to be safe in these patients. Ongoing clinical research will inform on the safety and efficacy of a more restrictive sodium intake to less than 1500 mg/day. Data shows that routine fluid restriction in HF regardless of symptoms may be unnecessary; however, in patients with signs of congestion, fluid restriction to 2.0 L/day may be advisable. Recently, more attention has been paid to other nutritional aspects of HF beyond sodium and fluid intake, although there is still little evidence available to guide nutritional management of HF. Assuring that patients meet daily requirements for key micronutrients, such as calcium, magnesium, potassium, folate, vitamin E, vitamin D, zinc, and thiamine, is essential in order to prevent deficiencies. More appropriate macronutrient composition of the diet is still to be determined; however, a diet containing 50-55% carbohydrates, 25-30% fat, and 15-20% protein seems acceptable for patients with HF with or without non-end-stage renal disease. Additionally, increased protein intake may be considered in malnourished/cachectic patients. Consulting a registered dietitian is especially helpful for patients with recent HF exacerbations or for patients with multiple comorbidities who may need to follow several dietary restrictions and may benefit of individualized dietary counseling in order to ensure appropriate intake of energy, protein, and micronutrients. Today, there are still several knowledge gaps in guiding the dietary management of HF. In this article, we review current recommendations for the dietary management of HF and the evidence supporting this practice.

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El aumento de la incidencia y prevalencia de hiperuricemia asintomática, la que está fuertemente asociada a los factores de riesgo cardiovasculares clásicos y la dificultad para definir su tratamiento con drogas ha jerarquizado al tratamiento dietético, a los efectos de identificar los alimentos que pueden tener efectos protectores sobre el nivel de ácido úrico plasmático (AU). Los niveles del AU dependen de la producción endógena (10%), disminución de la excreción (90%) o de ambas. La producción del AU depende de la ingesta de purina, sin embargo, una dieta rica en purina sería responsable solo de un aumento en 1 a 2 mg / dl del AU sérico. La pérdida < 5 kg disminuye hasta un 45% el riesgo de aumentar el AU, mientras que pérdidas superiores reducirían al menos el 60% del riesgo. De igual manera, el descenso del peso máximo y la estabilidad del peso disminuyen el riesgo de hiperuricemia. Se sugiere que este descenso no sea brusco para evitar el catabolismo muscular que puede conducir a sarcopenia con pérdida de la fuerza y debilidad muscular y aumento concomitante del AU. Reducen los niveles séricos de AU: leche, yogur y quesos blancos, las frutas ricas en vitamina C, huevos, frutas secas sin sal, legumbres (incluidas la soja) y pollo, salmón, bacalao y langosta. Debe limitarse las carnes rojas (cerdo, ternera, cabrito), y evitarse mariscos, pescados (trucha, atún, palometa, vieir

The increase of incidence and prevalence of asymptomatic hyperuricemia, closely related to the traditional cardiovascular risk factors, and the difficulty to establish a drug therapy for this condition have attached importance to dietary treatment; the aim is to identify foods which can prevent plasma uric acid (UA) concentrations from reaching abnormally high levels. UA level depends on endogenous production (10%), reduced excretion (90%) or both. Although UA production depends on the consumption of purine, a diet rich in purines is believed to be responsible only for a serum UA increase of 1 to 2 mg/dL. Losing < 5 kg reduces the risk of UA increase by up to 45%, whereas higher losses could lead to a risk at least 60% lower. In the same way, maximum weight loss and weight stability minimize the risk of hyperuricemia. Weight loss, however, should not be sudden so as to avoid muscle catabolism, which may cause loss of muscle mass and strength (sarcopenia) and a concomitant UA increase. The following foods can help reduce serum UA levels: milk, yogurt, fresh cheese, vitamin C-rich fruits, eggs, unsalted nuts, legumes (including soy), chicken, salmon, codfish and lobster. Red meat intake (pork, beef, goat meat) should be limited, and seafood, fish (trout, tuna, pompano, scallop, anchovy, herring, sardine and tuna in oil), bacon, viscera, turkey and lamb should be avoided.

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A Organização Mundial da Saúde (OMS) reiterou recentemente que o consumo de dietas inadequadas e a inatividade física estão entre os dez principais fatores de mortalidade. Diversos ensaios aleatorizados demonstram que intervenções alimentares adequadas podem diminuir ou prevenir significativamente o aparecimento de várias doenças crônicas não transmissíveis. Neste contexto, o papel da dieta vem sendo exaustivamente avaliado em estudos clínicos e epidemiológicos. Assim, já foi bem estabelecido na literatura que a quantidade e o tipo de gordura alimentar exercem influência direta sobre fatores de risco cardiovascular, tais como a concentração de lípides e de lipoproteínas plasmáticas, bem como sua associação a processos inflamatórios. Os ácidos graxos participam de complexos sistemas de sinalização intracelular, função que vem sendo bastante explorada. Os ácidos graxos poli-insaturados não somente influenciam a composição das membranas, metabolismo celular e sinais de tradução, mas também modulam a expressão de genes, regulando a atividade e a produção de diversos fatores de transcrição. A proposta deste artigo é rever tópicos relevantes referentes ao metabolismo de lípides e os relacionar a terapias nutricionais que possam contribuir para a prevenção e o tratamento de doenças associadas.

The World Health Organization (WHO) has recently reinforced the fact that inadequate diets, along with physical inactivity, are among the ten main determinant factors of mortality. Several randomized trials demonstrated that dietary interventions may lower or even prevent the occurrence of several non-communicable diseases. In this context, the role of diet has been exhaustively evaluated in several clinical and epidemiological studies. Thus, it is well established in literature that the amount and type of dietary fat have a direct influence on cardiovascular risk factors, such as lipids and plasma lipoprotein concentration, as well as their association with inflammatory processes. Fatty acids also participate in complex intracellular signaling systems, a function which has been currently investigated. Dietary polyunsaturated fatty acids (PUFA) act not only by altering membrane lipid composition, cellular metabolism and signal transduction, but also modulating gene expression by regulating the activity and/or production of different nuclear transcription factors. The aim of this article is to review important topics regarding the lipids metabolism and correlate them with nutritional therapies that may contribute to the prevention and treatment of related diseases.

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