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Autor:
Tomás Palanques-Pastor, Ana García-Robles, Carmen de Mingo, María Brugada, Nieves Vila, Francisca Moreno, Carlos Orti, Sara León, José Luis Poveda
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1093-1096
Objectives To present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopath
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:823-827
Background Infantile hepatic haemangiomas (IHHs) produce an excess of the thyroid hormone inactivating enzyme type-3 iodothyronine deiodinase (D3), leading to rapid degradation of thyroid hormones and consumptive hypothyroidism. The L-thyroxine repla
Hematuria as an adverse outcome following provocative growth hormone stimulation testing in children
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:539-543
Background: Provocative growth hormone (GH) stimulation testing is used to evaluate short stature and growth failure in children. Agents commonly used for testing include clonidine, arginine and glucagon. While stimulation testing is generally consid
Autor:
Hasan Önal, Abdurrahman Akgun, Teoman Akcay, Melek Yildiz, Sian Ellard, Elisa De Franco, Banu Kucukemre Aydin, Beyza Belde Dogan
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:345-348
Background: As KATP channel mutations are the most common cause of neonatal diabetes mellitus (NDM) and patients with these mutations can be treated with oral sulfonylureas, empiric therapy is a common practice for NDM patients. Case presentation: A
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:87-89
Background: Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this has been treated by subtotal pancreatectomy in the past. This therapeutic option poses an increased risk of developing d
Autor:
Susann Empting, Friedrich-Wilhelm Roehl, Klaus Mohnike, Isabelle Wieacker, Michael Peter, Katrin Borucki
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 28:867-871
Careful monitoring of the therapy is crucial for patients with congenital adrenal hyperplasia (CAH) in order to prevent the effects of increased androgen production as well as life-threatening salt-wasting crisis. The key metabolite, 17α-hydroxyprog
Autor:
Khalid Hussain, Irina Halvadzhiyan, Sonya Galcheva, Sian Ellard, Sarah E. Flanagan, Chayka Petrova, Violeta Iotova
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 30
Background:Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical
Autor:
Magdy El-Ziny, Amany El-Hawary, Abelhady El-Gilany, Nanees Salem, Nehad Chalaby, Abdelhameed Metwali, Megahed Abo-Elmagd, Ashraf A. Elsharkawy, Alaa Wafa
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 29
Annually, many children and adolescents with type 1 diabetes mellitus (T1DM) insist on fasting for Ramadan despite being exempted and despite knowing all the risks. We aimed to assess the safety and metabolic impact of Ramadan fasting in children wit
Autor:
Belén Pérez, Kristel Klaassen, Lourdes R. Desviat, Branka Zukic, Maja Stojiljkovic, Adrijan Sarajlija, Bozica Kecman, Milena Ugrin, Maja Djordjevic, Sonja Pavlovic
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Hyperphenylalaninemia (HPA) [phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies] is rare inborn metabolic disease characterized by elevated phenylalanine level in body fluids. In Serbia, 62 HPA patients have been identified through newb
Autor:
Ewa Małecka Tendera, Eliza Skala-Zamorowska, Marta Wilczek, Maria Kalina, Barbara Kalina-Faska, Marek Mandera
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 28
To evaluate auxology and metabolic disturbances in children with craniopharyngioma, and to present observational results of treatment of metabolic sequels with metformin and micronized fenofibrate.The studied group comprised 22 children [median age a