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Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:267-271
Objectives Myxedema crisis, a fatal complication of severe hypothyroidism, is extremely rare in children and treatment guidelines are lacking. Since availability of intravenous levothyroxine is limited in resource poor settings, myxedema crisis can b
Autor:
Nicole Reisch, Susanne Bechtold Dalla-Pozza, Martin Bidlingmaier, Ilja Dubinski, Heinrich Schmidt
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1543-1548
Objectives Children with salt-wasting congenital adrenal hyperplasia (CAH) have an impaired function of steroid synthesis pathways. They require therapy with glucocorticoid (GC) and mineralocorticoid hormones to avoid salt-wasting crisis and other co
Autor:
Gabriele Ramoser, Monika Jörg-Streller, Nils Janzen, Sabine Scholl-Bürgi, Daniela Karall, A Ramoni, A. Höller, Thomas Zöggeler
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:259-265
Objectives Tyrosinaemia type 1, an inherited disorder of tyrosine metabolism, is usually treated with a tyrosine-defined diet and since 2000 with nitisinone. So far, data about effects of nitisone during pregnancy and breastfeeding are rare. This is
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
Autor:
Meliha Demiral, Edip Unal, Huseyin Demirbilek, Nezahat Doğan Karaşin, Riza Taner Baran, Mehmet Nuri Ozbek
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1463-1468
Objectives Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1139-1146
Objectives An increase in the incidence of congenital hypothyroidism (CH) with eutopic gland has been reported worldwide due to neonatal screening programs. In this study, we aimed to determine the prevalence of transient CH (TCH) and to investigate
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. 34:961-969
Objectives Gonadotropin-releasing hormone analogs are the treatment of choice for central precocious puberty (CPP). This study characterizes patients treated with histrelin implant or leuprolide injection. Methods A US claims database was used to ide
Autor:
Motahar Heidari-Beni, Akbar Hassanzadeh, Hossein Saneian, Leila Khalilian, Fatemeh Famouri, Roya Kelishadi, Peyman Nasri, Majid Khademian
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:897-904
Objectives Nonalcoholic fatty liver disease (NAFLD) is one of the most common liver diseases in the pediatric population at global level. Present study aims to assess the effect of l-carnitine supplementation on the NAFLD in children and adolescents.
Autor:
Oya Ercan, Gurkan Tarcin, Hande Turan, Aydilek Dagdeviren Cakir, Ayca Aykut, Yavuz Ozer, Olcay Evliyaoğlu, Asude Durmaz
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1049-1053
Objectives Wolfram syndrome (WS) is a rarely seen autosomal recessive multisystem neurodegenerative disorder caused by mutations in the WFS1 gene. Case Presentation Three sisters with WS had diabetes mellitus (DM) at 4 years of age and optic atrophy.