Manual para la capacitación de actores sociales del compromiso 1: "Mejora del estado nutricional y de salud de los gestantes y niños hasta los 12 meses de edad para la prevención de la anemia", dirigido al personal de salud / Manual for the training of social actors of commitment 1: "Improvement of the nutritional and health status of pregnant women and children up to 12 months of age for the prevention of anemia", aimed at health personnel

El presente manual, ofrece al facilitador, y/o personal de salud, una metodología y orientaciones para seguir fortaleciendo las capacidades, habilidades y destrezas de los actores sociales, en el uso del rotafolio en los temas priorizados, para el desarrollo de visitas domiciliarias con calidad, logrando en los padres de familia o gestantes, una cultura de cuidado y protección para sus niñas y niños hasta 12 meses de edad, con énfasis en la prevención de la anemia

Manual de autoaprendizaje para el actor social del compromiso 1: "Mejora del estado nutricional y de salud de las gestantes y niños hasta los 12 meses de edad para la prevención de anemia" / Self-learning manual for the social actor of Commitment 1: "Improvement of the nutritional and health status of pregnant women and children up to 12 months of age for the prevention of anemia"

El presente manual contiene el desarrollo de temas sobre el Desarrollo Infantil Temprano saludable como un derecho de las niñas y niños; el actor social y su papel en el cuidado infantil, la prevención y reducción de la anemia; la visita domiciliaria y las sesiones temáticas para desarrollar durante la visita a los niños hasta los 12 meses de edad o a las gestantes; las que deberás revisar y aprender, para así motivar y persuadir a la madre, padre o cuidador de la niña o niño o a la gestante a mejorar las prácticas de cuidado

HFE hemochromatosis: an overview about therapeutic recommendations

Abstract Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the genetic basis of hemochromatosis and of other iron overload diseases or conditions which can lead to this phenotype. In the present review, the main aims are to show updates on hemochromatosis and to report a practical set of therapeutic recommendations for the human factors engineering protein (HFE) hemochromatosis for the p.Cys282Tyr (C282Y/C282Y) homozygous genotype, elaborated by the Haemochromatosis International Taskforce.

A influência do metabolismo do ferro na Doença de Parkinson: revisão de literatura / The influence of iron metabolism on Parkinson's Disease: literature review

RESUMO Introdução: A doença de Parkinson (DP) é conhecida por seu quadro neurodegenerativo devido à morte precoce de neurônios dopaminérgicos da substância nigra. Atualmente, sabe-se que a progressão da doença é dada de forma lenta e pode iniciar anos antes do diagnóstico ser firmado, por apresentar forte evidência de desenvolvimento com fatores de risco ambientais e comportamentais. Também mencionado como fator de risco na literatura, o ferro pode apresentar anormalidades no metabolismo que produzem estresse oxidativo, disfunção mitocondrial e inflamação neuronal, criando a hipótese de que essas sejam causas patogênicas principais da doença de Parkinson. Ainda há escassa evidência clínica de relação com a doença e recentemente diversos estudos têm buscado elucidar essa afinidade. Materiais e Métodos: Estudos pertinentes ao objetivo do trabalho foram selecionados em bases de dados - PubMed, Scielo e UptoDate - e revisados utilizando os seguintes descritores: "(parkinson disease) AND iron metabolism", "(parkinson disease) AND serum iron" e "((parkinson disease) AND serum iron) AND iron influence. Foram utilizados artigos datados dos últimos 10 anos (2009-2019). Conclusão: Sabe-se que ainda há divergência quanto ao papel do ferro e não há evidências suficientes que apoiem valores altos ou baixos de níveis de ferro sérico em pacientes portadores da doença de Parkinson quando comparado aos controles. Portanto, diante desse cenário, há uma grande necessidade de ampliação do campo de conhecimento dos fatores etiopatogênicos da doença. PALAVRAS-CHAVE: Doença de Parkinson, ferro sérico, desenvolvimento do parkinson, metabolismo do ferro

ABSTRACT Introduction: Parkinson's disease (PD) is known for its neurodegenerative picture due to the early death of dopaminergic neurons in the substantia nigra. Currently, it is known that the progression of the disease is slow and can start years before the diagnosis is made, as it presents strong evidence of development with environmental and behavioral risk factors. Also mentioned as a risk factor in the literature, iron can present metabolic abnormalities that produce oxidative stress, mitochondrial dysfunction and neuronal inflammation, raising the hypothesis that these are the main pathogenic causes of Parkinson's disease. There is still little clinical evidence of a relationship with the disease and recently several studies have sought to elucidate this affinity. Materials and Methods: Studies relevant to the objective of the work were selected in databases ­ PubMed, Scielo and UptoDate ­ and reviewed using the following keywords: "(parkinson disease) AND iron metabolism", "(parkinson disease) AND serum iron" and "((parkinson disease) AND serum iron) AND iron influence. Articles dated from the last 10 years (2009-2019) were used. Conclusion: It is known that there is still divergence as to the role of iron and there is not enough evidence to support high or low levels of serum iron values in patients with Parkinson's disease when compared to controls. Therefore, given this scenario, there is a great need to expand the field of knowledge of the etiopathogenic factors of the disease. KEYWORDS: Parkinson's disease, serum iron, Parkinson's development, iron metabolism

Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation / 中国当代儿科杂志

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. Major clinical manifestations are extrapyramidal symptoms. This disease is presently classified into 14 different subtypes based on different pathogenic genes, and its pathogenesis and treatment remain unclear. This article summarizes the research advances in the pathogenesis and treatment of NBIA, so as to help pediatricians understand this disease and provide a reference for subsequent research on treatment.

BPAN manifesting with febrile seizures and language delay: a case report from Brazil

Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX:48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE). (AU)

Guía para el cumplimiento de visitas domiciliarias por actores sociales. Meta 4: Acciones de los municipios para promover la adecuada alimentación, la prevención y la reducción de la anemia / Guide for compliance with home visits by social actors. Goal 4: Actions by municipalities to promote adequate nutrition, prevention and reduction of anemia

El documento contiene la finalidad, objetivos, ámbito de aplicación, base legal, consideraciones generales y específicas y responsabilidades con el fin de contribuir a que las municipalidades alcancen una mejor comprensión de la Meta 4 y de los procesos involucrados en su cumplimiento, y que ello les sirva de base para una implementación exitosa de las visitas domiciliarias en sus respectivas localidades.

Analysis of Iron Metabolism in Chronic Chagasic Cardiomyopathy / Análise do Metabolismo do Ferro na Cardiomiopatia Chagásica Crônica

Abstract Changes in iron metabolism in heart failure (HF) have been described as an important prognostic marker. To check if the markers of iron kinetics are related to the morbidity and etiology of chagasic cardiomyopathy. Patients with Chronic Chagasic Cardiomyopathy (CCC, n = 40), with indeterminate form (IND, n = 40), besides non-chagasic cardiomyopathy (NCh, n = 40). The mean age was 50.98 ± 5.88 in CCC, 50% were male, 49.68 ± 5.28 in IND, 52.2% were male, and 49.20 ± 10.09 in NCh, 12.5% were male. Lower levels of iron (FeSe) were observed in the CCC groups (93.15 ± 36.53), when compared to IND (125.30 ± 22.79) and NCh (114.77 ± 18.90) (p = 0.0004), lower IST transferrin saturation index in CCC (29.48 ± 6.59), when compared to IND (30.95 ± 7.06) and in the NCh group (39.70 ± 7.54) p = 0.0001), total binding capacity of the lower CTLF iron in the CCC group (297.30 ± 36.46), when compared to the IND group (196.52 ± 56.95) and the NCh group (275.18 ± 33, 48) (p = 0.0001), lower ferritin in the CCC group (134.55, 1.56-42.36), when compared to the IND group (156,25, 1,72-42,20) and the NCh group (112.95, 2.88-42.66) (p = 0.0004). It was also observed that FeSe (95% CI 1.00-1.04, p = 0.0014), IST (95% CI 1.02-1.22) (p = 0.0012) and gender (95% CI 1.07-14.43 p = 0.0038) were independently associated with the degree of ventricular dysfunction in chagasic cardiomyopathy. CCC patients showed greater change in iron metabolism regarding the indeterminate form and other forms of cariomyopathies.

Resumo A alteração do metabolismo do ferro na insuficiência cardíaca (IC) tem sido descrita como um importante marcador prognóstico. Verificar se os marcadores da cinética do ferro guardam relação com a morbidade e a etiologia da cardiomiopatia chagásica. Pacientes com cardiomiopatia chagásica crônica (CCC, n = 40), com a forma indeterminada (IND, n = 40), além de cardiomiopatia não chagásica (NCh, n = 40). A idade média foi de 50,98 ± 5,88 no CCC, 50% eram do sexo masculino, 49,68 ± 5,28 no IND, 52,2% eram do sexo masculino e 49,20 ±10,09 no NCh, 12,5% eram do sexo masculino. Observaram-se níveis de ferro (FeSe) menores no grupos CCC (93,15 ± 36,53), quando comparados ao IND (125,30 ± 22,79) e NCh (114,77 ± 18,90) (p = 0,0004), índice de saturação de transferrina (IST) menor no CCC (29,48 ± 6,59), quando comparado ao IND (30,95 ± 7,06) e no grupo NCh (39,70 ± 7,54) (p= 0,0001), capacidade total de ligação do ferro CTLF menor no grupo CCC (297,30 ± 36,46), quando comparado ao grupo IND (196,52 ± 56,95) e ao grupo NCh (275,18 ± 33,48) (p = 0,0001), ferritina menor no grupo CCC (134,55, 1,56-42,36), quando comparada ao grupo IND (156,25, 1,72 - 42,20) e ao grupo NCh (112,95, 2,88-42,66) (p = 0.0004). Verificou-se também que o FeSe (IC% 95% 1,00-1,04; p = 0,0014), o IST (IC 95% 1,02-1,22) (p = 0,0012) e o sexo (IC 95% 1,07-14,43 p = 0,0038) associaram-se independentemente ao grau de disfunção ventricular na cardiomiopatia chagásica. Os pacientes com CCC demonstraram maior alteração no metabolismo do ferro em relação a forma indeterminada e outras formas de miocardiopatias.

Sello Municipal: Gestión local para las personas. Guía para el cumplimiento de los productos del Ministerio de Salud / Municipal Seal: Local management for people. Guide for compliance with the products of the Ministry of Health

La presente publicación describe las pautas de adopción de las prácticas de alimentación infantil y de la gestante, a través de las sesiones demostrativas de preparación de alimentos ricos en hierro, así como las capacidades creativas de las familias en la combinación y preparación adecuada de los alimentos, utilizando alimentos nutritivos de la zona. En ese marco, la tercera edición de la publicación busca consolidar el reconocimiento a las municipalidades que tienen una labor destacada en el cumplimiento de metas priorizadas y en el desarrollo de buenas prácticas que incrementan la calidad de los servicios públicos, con lo que contribuyen a la mejora de las condiciones de vida de la población para su desarrollo e inclusión social

Basic Understanding of Iron Metabolism / 임상소아혈액종양

Iron is critical for almost all living organisms because it serves as a cofactor for many proteins and enzymes necessary for oxygen and energy metabolism. Disruption of iron homeostasis is associated with a wide range of diseases. Thus mammals have developed sophisticated mechanisms to maintain optimal range of iron concentration. Iron regulation involves processes at the systemic and cellular levels. These processes are regulated by hepcidin and iron regulatory proteins. Hepcidin modulates systemic iron homeostasis with ability to impede cellular iron export via interaction with the iron export protein, ferroportin. Whereas, iron regulatory proteins control cellular iron homeostasis by translational regulation of proteins which involve iron metabolism. Recent advances in the study of iron metabolism have shown promising results that hepcidin-targeted strategies may help to improve the diagnosis and treatment of iron related diseases. Although these strategies are now under development, ongoing studies can help to elucidate its application possibilities.

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome / Mutações no gene da cadeia leve da ferritina em duas famílias brasileiras com síndrome hereditária hiperferritinemia-catarata

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5'UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice.

RESUMO A síndrome hereditária hiperferritinemia-catarata é uma doença genética autossômica dominante associada a mutações na região 5'UTR do gene da cadeia leve da ferritina. Estas mutações elevam os níveis de ferritina, mesmo na ausência de sobrecarga de ferro. Os pacientes também desenvolvem catarata bilateral precocemente, devido ao acúmulo de ferritina no cristalino, e muitos são erroneamente diagnosticados como portadores de hemocromatose, sendo tratados de maneira inadequada. Os primeiros casos foram descritos em 1995, e diversas mutações já foram identificadas. Entretanto, essa síndrome ainda é pouco conhecida. Relatamos dois casos de famílias brasileiras, não relacionadas, com suspeita clínica da síndrome, que foram atendidas em nosso serviço. Para o diagnóstico definitivo, os pacientes afetados, seus pais e irmãos foram submetidos à pesquisa de mutação do gene ferritina, por sequenciamento de Sanger da região 5'UTR. Foram encontradas mutações do tipo polimorfismo de nucleotídeo único nos pacientes afetados, já descritas anteriormente. O teste auxiliou no diagnóstico preciso da doença e é importante ser divulgado, para ser incorporado na prática clínica.

Hepcidina: la llave del metabolismo del hierro / Hepcidin: the key of iron metabolism / Hepcidina: a chave do metabolismo do ferro

En las últimas décadas se ha avanzado en el conocimiento de la regulación del metabolismo del Hierro (Fe). La Hepcidina (Hp), producida por los hepatocitos, regula la absorción de hierro desde el tubo digestivo y la liberación desde los depósitos del sistema macrofágico y del hígado. En caso de deficiencia de Fe, la Hp está disminuida entregando Fe a la transferrina (Tf). El aumento de Fe y de las citoquinas de la inflamación estimulan la producción de Hp. El ejecutor de la Hp es la Ferroportina (FP), único exportador de Fe. Hay reguladores naturales de la Hp, como la Matriptasa 2. Las mutaciones que limitan su expresión inducen dificultades en la disponibilidad de Fe (IRIDA, sobrecarga de Fe). En los últimos años se ha identificado la Eritroferrona, producida por los eritroblastos activos en la eritropoyesis. Inhibe la síntesis de Hp, permitiendo la liberación del hierro de los depósitos y su absorción por el tubo digestivo, para facilitar la disponibilidad de Fe para la eritropoyesis. Aún no está definido cómo se podrán utilizar estos elementos en el campo diagnóstico, su estandarización y su aplicación terapéutica, pero es probable que resulten de gran utilidad.

In the last decades, a lot of progress has been made on the knowledge of iron (Fe) metabolism regulation. Hepcidin (Hp) is produced by hepatocytes and it regulates the iron absorption from the duodenum and the liberation from macrophages and from the liver. When there is iron deficiency, Hp, which delivers iron to transferrin (Tf), is low. Iron overload and inflammation cytokines stimulate Hp production. The Hp natural executor is Ferroportin (FP), which is the only iron exporter from the cells. One of the natural regulators of Hp is Matriptasa 2, which down regulates Hp. Mutations that limit their expression induce iron overload and anemia (IRIDA). In the last few years, Erythroferrone (ERFE) was discovered. ERFE is produced by active erythroblasts: it inhibits Hp synthesis, allowing the iron liberation from deposits and its duodenal absorption, and also the iron release from macrophages facilitating the erythroid production. The erythroblastic activity, even ineffective, acts as a stimulus of ERFE synthesis. Until now, it has not been defined yethow these different variables could be used for diagnosis, its standardization, or for therapeutic applications, but it is highly probable that they will improve our knowledge and managements kills in this field.

Nas últimas décadas háavanços no conhecimento da regulação do metabolismo do Ferro (Fe). A Hepcidina (Hp), produzida pelos hepatócitos, regula a absorção do ferro desde o tubo digestivo e a liberação desde os depósitos do sistema macrofágico e do fígado. Em caso de deficiência de Fe, a Hp está diminuída entregando Fe à transferrina (Tf). O aumento de Fe e as citoquinas da inflamação estimulam a produção de Hp. O executor da Hp é a Ferroportina (Fp), único exportador de Fe. Há reguladores naturais da Hp, como a Matriptase 2. As mutações que limitam sua expressão induzem dificultades na disponibilidade de Fe (IRIDA, sobrecarga de Fe). Nos últimos anos se identificou que a Eritroferrona, produzida pelos eritroblastosativos na eritropoiese inibe a síntese de Hp, permitindo a liberação de ferro dos depósitos e a absorção pelo tubo digestivo, para facilitar a disponibilidade de Fe para a eritropoiese. Ain da não sedefiniu como poderãoser utilizadosestes elementos no campo diagnóstico, sua padronização e sua aplicação terapêutica, mas é provável que sejam de grande utilidade.

Hemocromatosis herediataria Tipo I. Presentación de un caso / Type I hereditary hemocrhomatosis. Case presentation

La hemocromatosis hereditaria es una enfermedad genética de difícil diagnóstico, en estadios iniciales, ocasionada por alteraciones en el metabolismo del hierro; que conllevan a su depósito en diversos tejidos y como resultado una gran morbilidad en los pacientes afectados. A través de este trabajo se realizó la presentación del primer caso diagnosticado por gastroenterólogos, en el Hospital Faustino Pérez de Matanzas. El paciente debutó con síntomas relacionados con la esfera endocrina como: impotencia, pérdida de la líbido y de la eyaculación. Después de efectuar los estudios correspondientes se concluyó como un hipogonadismo hipogonadotrópico post puberal, por presentar elevación de las enzimas hepáticas. Fue remitido a consulta de Hepatología donde se completó su estudio, confirmándose el diagnóstico de hemocromatosis hereditaria tipo I, a través de biopsia hepática y estudios genéticos (AU).

Hereditary hemocrhomatosis is a genetic disease of difficult diagnosis in its early stages, caused by alterations in the iron metabolism; it leads to iron storage in several tissues and consequently to a great morbidity in affected patients. In this work, we presented the first case diagnosed by gastroenterologists in the Hospital Faustino Pérez, of Matanzas. The patient began with symptoms related with the endocrine sphere like impotence, and lost of libido and ejaculation. After finishing the correspondent studies, we arrived to the conclusion of post-pubertal hypogonadotropic hypogonadism: the patient presented hepatic enzymes elevation. He was referred to Hepatology consultation where the study was finished, confirming the diagnosis of Type I hereditary hemocrhomatosis through biopsy and genetic studies (AU).

Plan nacional para la reducción y control de la anemia materno infantil y la desnutrición crónica infantil en el Perú: 2017 ­ 2021. Documento técnico / National plan for the reduction and control of maternal anemia and chronic child malnutrition in Peru: 2017 - 2021. Technical

La publicación describe las pautas que busca orientar y fortalecer las acciones institucionales y la coordinación permanente con los distintos actores y gestores involucrados, a fin que permita alcanzar los objetivos planteados en el corto, mediano y largo plazo, así como el generar los mecanismos de seguimiento y evaluación de las actividades programadas para la reducción de la desnutrición crónica infantil al 10% y la anemia en menores de tres años al 20% al año 2016

Norma técnica ­ Manejo terapéutico y preventivo de la anemia en niños, adolescentes, mujeres gestantes y puérperas / Technical norms - Therapeutic and preventive management of anemia in children, pregnant women and puerperal women

La publicación describe las pautas y metodologías para contribuir al desarrollo y bienestar de niños, adolescentes, mujeres gestantes y puérperas en el marco de la atención integral de salud

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging / Uma orientação diagnóstica para neurodegeneração com acúmulo cerebral de ferro: aspectos clínicos, genéticos e de neuroimagem

ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.

RESUMO A neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética.