Documento de Consenso sobre a abordagem nutricional do paciente com sobrepeso e obesidade. Sociedade Argentina de Nutrição

Con el objetivo de elaborar un documento destinado a los profesionales de la salud dedicados a la nutrición, en especial a los que tratan a pacientes obesos, la Sociedad Argentina de Nutrición, a través de su Grupo de Trabajo de Obesidad, convocó a expertos especialistas en el tema a fin de lograr un consenso acerca del abordaje nutricional de los pacientes con sobrepeso y obesidad. Se llevaron a cabo tres reuniones, entre noviembre de 2010 y agosto de 2011, en las que numerosos profesionales del ámbito involucrado (médicos especialistas en nutrición, licenciados en nutrición y psicólogos) debatieron acerca de diferentes cuestiones relacionadas con el tratamiento nutricional que necesita el paciente que padece de sobrepeso u obesidad. Finalmente, se elaboró el presente documento con la finalidad de que llegue al mayor número posible de profesionales y resulten beneficiados la mayor cantidad posible de pacientesWith the objective of creating a document for health care professionals specialized in nutrition, particularly for those who treat obese patients, the Argentine Society of Nutrition, represented by the Obesity Working Group, reunited a group of subject specialists with the aim of reaching a consensus on the nutritional management of overweight and obese patients. Three meetings were held between November 2010 and August 2011, in which a large number of professionals (doctors who specialize in nutrition, nutritionists and psychologists) debated about different questions related to the nutritional treatment needed by overweight and obese patients. Finally, the following document was developed in order to reach the largest possible number of professionals and, therefore, benefit the largest possible number of patients.Com o objetivo de elaborar um documento destinado aos profissionais da saúde dedicados à nutrição, especialmente àqueles que tratam de pacientes obesos, a Sociedade Argentina deNutrição, através do seuGrupo de Trabalho de Obesidade, convocou especialistas no assunto a fim de obter um consenso sobre a abordagem nutricional dos pacientes com sobrepeso e obesidade. Foram realizadas três reuniões, entre novembro de 2010 e agosto de 2011, onde numerosos profissionais do meio envolvido(médicos especialistas emnutrição,nutricionistas e psicólogos) debateram sobre as diferentes questões relacionadas com o tratamento nutricional que precisa o paciente que padece de sobrepeso ou obesidade. Finalmente, foi elaborado o presente documento com a finalidade de chegar ao maior número possível de profissionais e de beneficiar a maior quantidade possível de pacientes.Fil: Katz, Mónica. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Cappelletti, Ana M.. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Kawior, Inés. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Aguirre Ackermann, Marianela. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Anger, Vanesa. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Armeno, Marisa. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Giannini, Martín. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Langellotti, Alicia. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Mayer, Marcos Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Pentreath, Carolina. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; ArgentinaFil: Viñuales, Martín. Sociedad Argentina de Nutrición. Grupo de Trabajo Obesidad; Argentin

Ketogenic diet use in children with intractable epilepsy secondary to malformations of cortical development : a two- centre experience

PURPOSE: To evaluate the efficacy and tolerability of the ketogenic diet (KD) as a treatment for drug-resistant epilepsy secondary to malformations of cortical development. METHODS: A two-centre retrospective analysis of 45 paediatric patients with refractory epilepsy due to malformation of cortical development was carried out. Patients were divided into three groups based on malformation type: abnormal neural proliferation (Group 1); abnormal neural migration (Group 2) and abnormal post-migrational development (Group 3). The efficacy of the KD was assessed in terms of seizure frequency reduction. We identified the proportion of patients achieving >\u202f50% seizure frequency reduction overall and in the three subgroups. RESULTS: The adherence to KD was variable. KD was pursued from a minimum of 4 months to a maximum of 96 months. 20 patients (44%) obtained a seizure reduction of >\u202f50% and 2 patients became seizure free.\u202f>50% seizure reduction was most commonly achieved by patients in group 3 (64.7%) than in groups 2 (31.8%) and 1 (33.3%). CONCLUSIONS: The best response was observed in patients with malformations of post migrational development. Considering its tolerability, the use of KD should be considered in patients with drug-resistant epilepsy secondary to malformations of cortical development when surgery is not a viable option

Glut1 Deficiency Syndrome (Glut1DS ) : State of the art in 2020 and recommendations of the international Glut1DS study group

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide-ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants. KDT represent standard choices with Glut1DS-specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function. Clinical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long-term disease burden. Impaired development of the brain microvasculature is one such complication of delayed Glut1DS treatment in the postnatal period. This international consensus statement should facilitate prompt diagnosis and guide best standard of care for Glut1DS throughout the life cycle

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide-ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants. KDT represent standard choices with Glut1DS-specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function. Clinical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long-term disease burden. Impaired development of the brain microvasculature is one such complication of delayed Glut1DS treatment in the postnatal period. This international consensus statement should facilitate prompt diagnosis and guide best standard of care for Glut1DS throughout the life cycle. © 2020 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide-ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants. KDT represent standard choices with Glut1DS-specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function. Clinical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long-term disease burden. Impaired development of the brain microvasculature is one such complication of delayed Glut1DS treatment in the postnatal period. This international consensus statement should facilitate prompt diagnosis and guide best standard of care for Glut1DS throughout the life cycle