Nutrition recommendations for patients with pseudohypoparathyroidism.

Pseudohypoparathyroidism (PHP) is a spectrum of diseases characterized by insensitivity of target tissues to the action of parathyroid hormone and, consequently, by the presence of hyperphosphatemia and hypocalcaemia of varying severity. Early-onset obesity is a feature of PHP type 1A. This article discusses the need to establish uniform criteria to guide the nutritional management of patients with PHP. A decrease in energy expenditure calls for an adjustment of the energy content of the diet. Reducing the intake of foods rich in inorganic phosphorus helps to manage hyperphosphataemia. Targeted nutrition should be part of the treatment plan of children and adolescents with PHP, since it contributes to modulating the calcium and phosphorus metabolism imbalances characteristic of these patients.

Variaciones y diferentes percepciones en la suplementación con vitamina D en la edad pediátrica en España / Variations and different perceptions in vitamin D supplementation in paediatric age in Spain

Introducción: el raquitismo es un problema de salud a nivel global. La deficiencia de vitamina D se ha convertido en una pandemia, su interés ha aumentado por la implicación de la misma en múltiples acciones extraesqueléticas. Material y métodos: se realizó una encuesta a través de correo electrónico entre pediatras españoles para estudiar su actitud en relación con la suplementación profiláctica de vitamina D. Resultados: un 83% de los pediatras tienen políticas de profilaxis de vitamina D en su área. Un 61,6% inicia la profilaxis en las dos primeras semanas y un 81,5% la mantiene el primer año. Un 57,2% realiza una búsqueda de deficiencia de vitamina D, sobre todo si trabajan en medio hospitalario. Conclusiones: las políticas de profilaxis con vitamina D son bastantes uniformes. Más de la mitad de los pediatras españoles realizan una búsqueda sistemática mediante analítica de deficiencia de vitamina D en sus pacientes con factores de riesgo durante la infancia y adolescencia (AU)

Introduction: rickets is a global health problem. Vitamin D deficiency has become a pandemic, its interest has increased due to its implication in multiple extraskeletal actions.Material and methods: a survey was conducted by e-mail among spanish paediatricians to study their attitude regarding prophylactic vitamin D supplementation.Results: 83% of pediatricians have vitamin D prophylaxis policies in their area. 61.6% start prophylaxis in the first two weeks, 81.5% maintain it the first year. 57.2% search for vitamin D deficiency, especially if they work in a hospital.Conclusions: vitamin D prophylaxis policies are uniform. More than a half of Spanish pediatricians conduct a systematic search for vitamin D deficiency in their patients with risk factors during childhood and adolescence (AU)

Rare neonatal diabetes insipidus and associated late risks: case report.

BACKGROUND: Most cases of neonatal central diabetes insipidus are caused by an injury, which often results in other handicaps in the patient. The infant's prognosis will be determined by his or her own early age and disability as well as by the physician's skill. However, the rarity of this condition prevents the acquisition of personal experience dealing with it. CASE PRESENTATION: A neonatal hemorrhagic stroke, caused by an aortic coarctation, caused right lower limb paresis, swallowing disability, and central diabetes insipidus in a term infant. The scant oral intake, as a consequence of his disability, caused progressive undernutrition which closed a vicious circle, delaying his development and his ability to overcome the swallowing handicap. On the other hand, nasal desmopressin absorption was blocked by several common colds, resulting in brain bleeding because of severe dehydration. This even greater brain damage hampered the improvement of swallowing, closing a second harmful circle. Moreover, a devastating central myelinolysis with quadriplegia, caused by an uncontrolled intravenous infusion, consummated a pernicious sequence, possibly unreported. CONCLUSIONS: The child's overall development advanced rapidly when his nutrition was improved by gastrostomy: This was a key effect of nutrition on his highly sensitive neurodevelopment. Besides, this case shows potential risks related to intranasal desmopressin treatment in young children.

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.

This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).