[New Insulins for Type 1 Diabetes treatment]. / Nuevas Insulinas en el tratamiento de la Diabetes Tipo 1.

Insulin therapy is complex in pediatric patients because they present greater variations in insulin requirements. Traditional insulins have limitations related to time of onset of action and duration of effect, which has led to the development of new insulins, seeking to reduce chronic complications, severe or nocturnal hypoglycemia, and to improve adherence to therapy. This review updates the information on new insulins, their mechanisms of action and the benefits they provide in the treatment of diabetes. Insulin analogues attempt to mimic the physiological secretion of the hormone, including time of action and duration of effect. The most used prandial analogs are the so-called rapid-acting insulins, including Faster Aspartic and the new basal insulins, glargine U300 and degludec, which have a prolonged action of more than 24 hours and therefore require a daily dose. New technologies under development include biosimilar insulins such as the glargine biosimilar, already available in the clinic. New formulations are being developed for the future, as well as novel ways of dispersing them, mimicking the action of pancreatic cells, which will allow a more physiological and personalized management of the disease.

[Fibrodysplasia ossificans progressiva. Report of one case]. / Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico.

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.

Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico / Fibrodysplasia ossificans progressiva: report of one case

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.

Carcinoma papilar de tiroides en un niño con hipotiroidismo congénito dishormonogénico: Reporte de un caso / Papillary thyroid carcinoma in a child with congenital dyshormonogenetic hypothyroidism: Case report

Introducción: El cáncer papilar de tiroides (CPT) es una enfermedad infrecuente en pediatría. La presentación de CPT asociado a hipotiroidismo congénito (HC) dishormonogénico es excepcional, y hay pocos casos reportados en la literatura. Objetivo: Presentar un caso de CPT en un paciente con HC dishormonogénico sin bocio, expuesto a radiación ionizante. Evaluar asociaciones entre estos factores y el desarrollo de CPT. Caso clínico: Paciente varón con antecedentes de HC dishormonogénico, por lo que recibió suplementación precoz con levotiroxina, logrando niveles normales de tirotropinas y hormonas tiroideas. Con antecedentes de cardiopatía congénita, fue sometido tratamiento intervencional con 10 cateterismos cardíacos y aproximadamente 26 radiografías de tórax con dosis pediátrica. A la edad de 6 años se encontró un nódulo tiroideo mediante ecografía. La citología por punción aspirativa con aguja fina confirmó alta sospecha de carcinoma tiroideo (Bethesda 5). El estudio de etapificación no mostró metástasis en el tórax ni en el cerebro. Fue sometido a tiroidectomía total y el análisis histopatológico reveló un microcarcinoma papilar de 0,5 cm intratiroideo, sin evidencia de diseminación. Conclusión: Las mutaciones genéticas propias de esta enfermedad y la exposición a radiación ionizante pudieran estar implicadas en el desarrollo de CPT. Es probable que haya vías fisiopatológicas comunes que requieren mayor investigación.

Introduction: Papillary thyroid carcinoma (PTC) is a rare childhood disease. The development of PTC in dyshormonogenetic congenital hypothyroidism (CH) is infrequent, with very few case reports in literature. Objective: To report a case of PTC in a boy with dyshormonogenetic CH without goitre and exposed to ionising radiation. To evaluate relationships between these factors and development of PTC. Case report: We present a boy with dyshormonogenetic CH since birth. Early hormonal substitution was initiated, with subsequent normal levels of thyrotropin and thyroid hormones. He has also congenital cardiomyopathy, exposed to interventional treatment with 10 heart catheterisations, and approximately 26 chest X-rays at paediatric doses. A thyroid nodule was found in thyroid echography at the age of 6 years old. Fine needle aspiration biopsy confirmed high probability of thyroid carcinoma (Bethesda 5). The pre-surgical thorax and cerebral scan showed no evidence of metastasis. The patient underwent total thyroidectomy. Pathological examination revealed a 0.5 cm papillary thyroid micro-carcinoma in the right lobe, with no evidence of dissemination. Conclusion: Genetic mutations and radiation exposure may play an important role in the development of PTC. There may be common pathways between dyshormonogenetic CH and thyroid carcinoma that need further investigation.

[Papillary thyroid carcinoma in a child with congenital dyshormonogenetic hypothyroidism. Case report]. / Carcinoma papilar de tiroides en un niño con hipotiroidismo congénito dishormonogénico. Reporte de un caso.

INTRODUCTION: Papillary thyroid carcinoma (PTC) is a rare childhood disease. The development of PTC in dyshormonogenetic congenital hypothyroidism (CH) is infrequent, with very few case reports in literature. OBJECTIVE: To report a case of PTC in a boy with dyshormonogenetic CH without goitre and exposed to ionising radiation. To evaluate relationships between these factors and development of PTC. CASE REPORT: We present a boy with dyshormonogenetic CH since birth. Early hormonal substitution was initiated, with subsequent normal levels of thyrotropin and thyroid hormones. He has also congenital cardiomyopathy, exposed to interventional treatment with 10 heart catheterisations, and approximately 26 chest X-rays at paediatric doses. A thyroid nodule was found in thyroid echography at the age of 6 years old. Fine needle aspiration biopsy confirmed high probability of thyroid carcinoma (Bethesda 5). The pre-surgical thorax and cerebral scan showed no evidence of metastasis. The patient underwent total thyroidectomy. Pathological examination revealed a 0.5cm papillary thyroid micro-carcinoma in the right lobe, with no evidence of dissemination. CONCLUSION: Genetic mutations and radiation exposure may play an important role in the development of PTC. There may be common pathways between dyshormonogenetic CH and thyroid carcinoma that need further investigation.