Zobrazeno 1 - 10
of 1 735
pro vyhledávání: '"CAH"'
Autor:
Eileen Luders, Christian Gaser, Debra Spencer, Ajay Thankamony, Ieuan Hughes, Umasuthan Srirangalingam, Helena Gleeson, Melissa Hines, Florian Kurth
Publikováno v:
Anatomia, Vol 3, Iss 3, Pp 155-162 (2024)
Congenital Adrenal Hyperplasia (CAH) has been reported to involve structural alterations in some brain regions. However, it remains to be established whether there is also an impact on the size of the brain as a whole. Here, we compiled the largest C
Externí odkaz:
https://doaj.org/article/6e3ea9f0102b497f88bdcb4f60ad0149
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background 17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and
Externí odkaz:
https://doaj.org/article/746ee57f4c7f4370a2c39fa000c86d2d
Autor:
Aled Daffyd Rees, Deborah P Merke, Wiebke Arlt, Aude Brac De La Perriere, Angelica Linden-Hirschberg, Anders Juul, John Newell-Price, Alessandro Prete, Nicole Reisch, Nike M Stikkelbroeck, Philippe A Touraine, Alex Lewis, John Porter, Helen Coope, Richard J Ross
Publikováno v:
Endocrine Connections, Vol 13, Iss 8, Pp 1-8 (2024)
Background: Prednisolone and prednisone are recommended treatment options for adults with congenital adrenal hyperplasia (CAH); however, there is no randomised comparison of prednis(ol)one with hydrocortisone. Design: Six-month open-label randomised
Externí odkaz:
https://doaj.org/article/9c082fbf1ccd444a90aea6c8d0fd6b11
Autor:
Alina Bilyalova, Airat Bilyalov, Nikita Filatov, Elena Shagimardanova, Andrey Kiyasov, Maria Vorontsova, Oleg Gusev
Publikováno v:
Laboratory Animal Research, Vol 40, Iss 1, Pp 1-11 (2024)
Abstract The study of adrenal disorders is a key component of scientific research, driven by the complex innervation, unique structure, and essential functions of the adrenal glands. This review explores the use of non-traditional animal models for s
Externí odkaz:
https://doaj.org/article/95da2d6437c7406c8fe39bbc6e080996
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundThe effects of long-term glucocorticoid (GC) treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) remain controversial.ObjectivesThis cross-sectional study aimed to evaluate BMD in relation to genoty
Externí odkaz:
https://doaj.org/article/7de6117b04e341eb95221871d04f9f31
Autor:
Takashi Yazawa, Yugo Watanabe, Yuko Yokohama, Yoshitaka Imamichi, Kazuya Hasegawa, Ke-ichi Nakajima, Takeshi Kitano, Takanori Ida, Takahiro Sato, Mohammad Sayful Islam, Akihiro Umezawa, Satoru Takahashi, Yasuhito Kato, Sharmin Jahan, Jun-ichi Kawabe
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
3β-Hydroxysteroid dehydrogenases (3β-HSDs) catalyze the oxidative conversion of delta (5)-ene-3-beta-hydroxy steroids and ketosteroids. Human 3β-HSD type 2 (HSD3B2) is predominantly expressed in gonadal and adrenal steroidogenic cells for producin
Externí odkaz:
https://doaj.org/article/8b8186365c784724afed80dc9e31ad03
Autor:
Zuzanna Szczepaniak, Agata Konopka, Natalia Wdowiak, Karina Lissak, Małgorzata Komarów, Martyna Choinka, Dominika Karasińska, Jakub Kalisiak
Publikováno v:
Quality in Sport, Vol 22 (2024)
Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations
Externí odkaz:
https://doaj.org/article/692ebd1b42ff44c8bb153d73aa01946c
Autor:
Paola Concolino
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4832-4844 (2024)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects. The most common variant of CAH, 21-hydroxylase deficiency (21OH
Externí odkaz:
https://doaj.org/article/c2d185a944dd4bd1843e7117f41c232f
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of Neurology and Genetics (CING), an affiliated Reference Center for the European Reference Network on
Externí odkaz:
https://doaj.org/article/1e87afb2d2874987ae1e7a1a4bb5d352