Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical ...interventions have changed the survival of children. A search for articles published in the PubMed database on the latest medical decisions in newborns with trisomy 18 was done. Two main subjects were examined: (1) the chances of survival and (2) the perception of quality of life. Trisomy 18 is no longer considered a disease incompatible with life, and the discussion has shifted towards the type of treatment that is appropriate to initiate at birth. There are two medical attitudes towards these children: either palliative care or life-prolonging interventions. With medical intervention, the survival is as high as 23% at 5 years of age. Regarding the quality of life, all decision-makers emphasize the possibility of taking the child home. The physicians’ perception is more pessimistic than that of the parents. Only a few children benefit from medical interventions.
Conclusion
: There is a rethinking of treatment behavior in children with trisomy 18. The possible quality of life achieved should be further investigated. It seems inappropriate to simply dismiss medical interventions.
What is Known
•
Until recently, trisomy 18 was considered a disease incompatible with life. The most common behavior was abortion and denial of treatment.
What is New
•
It is no longer considered a lethal disease. The type of medical intervention that is appropriate to perform is now being discussed. Selected children benefit from an interventionist approach.
2023: a moment for challenge Moreno Villares, José Manuel; Olveira, Gabriel
Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral,
2023-Feb-15, Letnik:
40, Številka:
1
Journal Article
Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of ...intestinal enteroendocrine cells due to recessively inherited mutations in the
(
) gene, has been described as a cause of congenital malabsorptive diarrhea. Diabetes mellitus also is typically associated with
mutations, be it early onset or a later presentation. Here we report a case of a 16-year-old male patient with severe malabsorptive diarrhea from birth, who was parenteral nutrition dependent and who developed diabetes mellitus at 11 years old. To the best of our knowledge, only 9 cases of recessively inherited
mutations have been reported in the literature to date. Our patient presents with several remarkable differences compared with previously published cases. This report can contribute by deepening our knowledge on new aspects of such an extremely rare disease.
Background: the number of infants and children who receive artificial nutrition at home has been steadily increasing over the last decades, as better outcomes for children with chronic conditions ...have been achieved. In order to evaluate the need of resources to implement the technique it is necessary to know how many patients benefit from home artificial nutrition. This information can be estimated from the register of patients, when available. Methods: in this paper the characteristics of all registers were reviewed, especially those devoted to pediatric patients. Results: only two pediatric registers are active in 2023: the Canadian register and the Spanish one. NADYA register from the Spanish Society for Clinical Nutrition and Metabolism (SENPE) and the recent REPAFI, form the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition. The most valuable register from the British Society, BANS, stopped providing information in 2018. Conclusion: despite the fact of acknowledging the importance of having gathered information on the prevalence and incidence of home artificial nutrition, to fit resources to necessities, the number of active registers is quite short.IntroductionBackground: the number of infants and children who receive artificial nutrition at home has been steadily increasing over the last decades, as better outcomes for children with chronic conditions have been achieved. In order to evaluate the need of resources to implement the technique it is necessary to know how many patients benefit from home artificial nutrition. This information can be estimated from the register of patients, when available. Methods: in this paper the characteristics of all registers were reviewed, especially those devoted to pediatric patients. Results: only two pediatric registers are active in 2023: the Canadian register and the Spanish one. NADYA register from the Spanish Society for Clinical Nutrition and Metabolism (SENPE) and the recent REPAFI, form the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition. The most valuable register from the British Society, BANS, stopped providing information in 2018. Conclusion: despite the fact of acknowledging the importance of having gathered information on the prevalence and incidence of home artificial nutrition, to fit resources to necessities, the number of active registers is quite short.
Resumen El crecimiento y desarrollo de un individuo está determinado desde la etapa embrionaria por su genética y los factores ambientales con los que interactúa. Los riesgos para la salud infantil y ...adulta pueden programarse durante las etapas fetal-neonatal y esta programación metabólica precoz puede afectar al desarrollo posterior de enfermedades como la obesidad y otras enfermedades no transmisibles (ENT) asociadas. La vida temprana, por la gran plasticidad que la caracteriza, constituye el momento ideal para intervenir y prevenir el riesgo de ENT (ventana de oportunidad). Una nutrición óptima durante los primeros 1000 días, que comprende desde la concepción hasta los dos años, es clave para la salud a lo largo de la vida. El rápido crecimiento y desarrollo del organismo y sus funciones durante el embarazo, la lactancia y el niño de corta edad conlleva requisitos nutricionales específicos en cada una de estas etapas. La microbiota del tracto gastrointestinal desempeña una labor fundamental en la función y el desarrollo del sistema inmune. Las interacciones entre el hospedador y su microbiota intestinal se consideran factores potenciales en la programación temprana de las funciones intestinales, con una evidencia creciente de que las alteraciones de la colonización bacteriana en el neonato se asocian con un mayor riesgo de enfermedad, incluidas las enfermedades alérgicas. La evidencia científica acumulada muestra que los primeros 1000 días son cruciales para alcanzar el mejor desarrollo y salud a largo plazo, y constituyen un periodo estratégico en términos de prevención y salud pública.
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