Results 71 to 80 of about 63,700 (243)

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation

Jornal de Pediatria, 2019
Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases.
Cristiane Kopacek, Mayara J. Prado, Claudia M.D. da Silva, Simone M. de Castro, Luciana A. Beltrão, Paula R. Vargas, Tarciana Grandi, Maria L.R. Rossetti, Poli Mara Spritzer   +8 more
doaj   +3 more sources

Interventional oncology in children: Where are we now?

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel, Fernando Gómez Muñoz   +1 more
wiley   +1 more source

Successful treatment for adrenocorticotropic hormone-independent macronodular adrenal hyperplasia with laparoscopic adrenalectomy: a case series

Journal of Medical Case Reports, 2012
Introduction Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, characterized by bilateral macronodular adrenal hypertrophy and autonomous cortisol production, is a rare cause of Cushing’s syndrome.
Ito Toshiki, Kurita Yutaka, Shinbo Hitoshi, Otsuka Atsushi, Furuse Hiroshi, Mugiya Soichi, Ushiyama Tomomi, Ozono Seiichiro, Oki Yutaka, Suzuki Kazuo   +9 more
doaj   +1 more source

ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study. [PDF]

, 2019
Background We recently found that ARMC 5 variants may be associated with primary aldosteronism in blacks. We investigated a cohort from the MH - GRID (Minority Health Genomics and Translational Research Bio-Repository Database) and tested the association
Berthon, Annabel, Davis, Adam R, Faucz, Fabio R, Gaye, Amadou, Gibbons, Gary H, Hannah-Shmouni, Fady, Lodish, Maya B, Stratakis, Constantine A, Zilbermint, Mihail   +8 more
core  

The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]

, 2019
Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
core   +2 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Genome editing in the adrenal gland: a novel strategy for treating congenital adrenal hyperplasia [PDF]

Exploration of Endocrine and Metabolic Diseases
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency leads to high morbidity and mortality, despite the availability of life-saving corticosteroid replacement therapy.
Eva B. van Dijk, Samantha L. Ginn, Ian E. Alexander, Lara E. Graves   +3 more
doaj   +1 more source

An intracellular recombinant single‐chain variable antibody fragment as a new class of phosphodiesterase type 5 inhibitors

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a ubiquitous second messenger involved in human (patho‐)physiology. Phosphodiesterase 5 (PDE5) is a major cGMP hydrolyzing enzyme in many cell types including vascular smooth muscle cells (VSMCs). Several highly selective PDE5 inhibitors are in clinical use. However, there are currently no
Kürsat Kirkgöz, Sophie Sprenger, Olga Schweigert, Sanika Mohagaonkar, Matti Walsdorff, Tanja Zeller, Filip Berisha, Viacheslav O. Nikolaev, Sergei D. Rybalkin   +8 more
wiley   +1 more source

Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

Journal of Medical Case Reports, 2013
Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest ...
Ferreira Florbela, Martins João Martin, do Vale Sónia, Esteves Rui, Nunes Garção, Carmo Isabel do   +5 more
doaj   +1 more source

Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells

IJU Case Reports, 2020
Introduction Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adrenal
Kanako Matsuoka, Yuichi Sato, Seiji Hoshi, Tomoyuki Koguchi, Soichiro Ogawa, Tomohiro Ishii, Nobuhiro Haga, Tomonobu Hasegawa, Yoshiyuki Kojima   +8 more
doaj   +1 more source