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Autor:
Kie Yasuda, Shinsuke Onuma, Yoko Miyoshi, Miho Fukui, Yoshinori Satomura, Kazuhiko Bessho, Makiko Tachibana, Takeshi Kimura, Tomoya Fukuoka, Keiichi Ozono
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1411-1418
Objectives Iodine deficiency and excess both cause thyroid dysfunction. Few data describe the relationship between iodine status and outcomes of congenital hypothyroidism (CH) in iodine-sufficient areas. We investigated urinary iodine (UI) concentrat
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1023-1030
Objectives Medium-chain (MCA) and long-chain acylcarnitine (LCA) blood concentrations play a significant role in the fatty acid (FA) oxidation process, especially during the first days of life. Identification of their abnormal concentrations, via exp
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 33:1501-1505
Background Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity. Case presentation A 42-day-old man presented with failure to thrive, hyponatremia, high urine sod
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1259-1264
Background Fibroblast growth factor 23 (FGF23) is a recently discovered bone-derived regulator of vitamin D metabolism and phosphate homeostasis. It inhibits phosphate reabsorption and calcitriol production by the kidney. Myelomeningocele (MMC) remai
Autor:
Ved Bhushan Arya, Justin H Davies
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:403-407
Context Germ cell tumours (GCTs) secreting β-human chorionic gonadotropin (β-HCG) are a rare cause of gonadotropin-independent precocious puberty (GIPP). Case description A 5.7-year-old boy presented with GIPP. Investigations to elucidate the under
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:
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:
Helena Kobe, Urh Groselj, Matic Kelvisar, Barbka Repic Lampret, Mojca Zerjav Tansek, Tadej Battelino
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 29
Phenylalanine hydroxylase deficiency causes various degrees of hyperphenylalaninemia (HPA). Tetrahydrobiopterin (BH4; sapropterin) reduces phenylalanine (Phe) levels in responders, enabling relaxation of dietary therapy. We aimed to assess long-term
Autor:
Caroline Colvin, Ludwine Messiaen, Michelle Coulter, David K. Crossman, Bruce R. Korf, Michael J. Crowley, Kenneth McCormick, Benjamin Tuanama
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 28
BACKGROUND Although most hypocalcemia with hypomagenesemia in the neonatal period is due to transient neonatal hypoparathyroidism, magnesium channel defects should also be considered. CASE We report a case of persistent hypomagnesemia in an 8-day-old
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 28
Objective The nicotinamide nucleotide transhydrogenase (NNT) enzyme is the main generator of nicotinamide adenine dinucleotide phosphate-oxidase in the mitochondrion. Mutations of the NNT gene have been recently implicated in familial glucocorticoid