Publications by authors named "Natalia Gazek"

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. It is characterized by café-au-lait spots, melanocytic hamartomas of the iris, pseudo-freckles, neurofibromas, and tumor predisposition. The presence of neurofibromas in the thyroid gland is extremely rare.

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Monocarboxylate transporters (MCTs) allow the cellular entry of thyroid hormones, especially into the central nervous system (CNS), where they are crucial for neurodevelopment. MCT8 deficiency results in the combination of hypothyroidism in the CNS and peripheral hyperthyroidism, characterized by elevated T3 levels. The only treatment currently available is 3,3',5-triiodothyroacetic acid (TRIAC), a thyroid hormone analogue aimed at improving peripheral thyrotoxicosis and preventing the progression of neurological impairment.

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Introduction: Collaborative clinical trials have enlarged the knowledge base about pediatric tumors; however, this is not the case for rare tumors (RT).

Objective: To describe the prevalence, clinical characteristics, and course of RT in pediatric patients diagnosed at Hospital Garrahan.

Material And Methods: Descriptive, retrospective study of patients aged 0-18 years diagnosed with a RT and admitted between January 2007 and December 2017.

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Papillary thyroid cancer is the most common thyroid tumor in childhood. In advanced stages, it can present with respiratory failure. The treatment of choice is total thyroidectomy and radioactive iodine.

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Hypothyroidism caused by Hashimoto's thyroiditis is the most common reason for thyroid dysfunction in children. Our objective was to analyze its impact on final stature in relation to height and pubertal stage at the time of diagnosis in children younger than 18 years with severe autoimmune hypothyroidism. Out of 79 patients, 78.

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Acute hypokalemic paralysis is a rare cause of acute weakness. Thyrotoxic periodic paralysis (TPP) is an unusual complication of hyperthyroidism. It is characterized by sudden onset of hypokalemia condition resulting from a shift of potassium into cells and paralysis that primarily affects the lower extremities.

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