Results 81 to 90 of about 968,479 (311)

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia [PDF]

, 2005
Context: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids.
Maret, A, Mullis, PE, Leheup, B, Flück, Christa E., Portrat-Doyen, Stéphanie, Achermann, JC, Mallet, D, Fluck, CE, Mullis, Primus-Eugen, Morel, Yves, Theintz, Gérald E., Theintz, GE, Leheup, Bruno, Achermann, John C., Morel, Y, Portrat-Doyen, S, Maret, Alexander, Mallet, Delphine, Portrat-Doyen, S., Maret, A., Leheup, B., Fluck, C. E., Mullis, P. E., Morel, Y., Achermann, J. C., Mallet, D., Theintz, G. E.   +26 more
core   +2 more sources

Incidence, Risk Factors and Management of Adverse Events in Contemporary Real‐World Care of Children with Juvenile Idiopathic Arthritis

Arthritis Care &Research, Accepted Article.
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi, Roberta A. Berard, Jean‐Philippe Proulx‐Gauthier, Heinrike Schmeling, Michelle Batthish, Gilles Boire, Adam M. Huber, Dax G. Rumsey, Jaime Guzman, Gaëlle Chédeville, The CAPRI registry Investigators   +10 more
wiley   +1 more source

Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism

Orphanet Journal of Rare Diseases
Background Congenital hyperinsulinism (HI) is a rare condition causing excessive insulin secretion, leading to severe hypoglycemia and high risk of neurological damage. Studies of neurodevelopmental outcomes in HI report prevalence ranging from less than
Lauren N. Lopez, Indraneel Banerjee, Diva D. De Leon, Tai L. S. Pasquini, Marcia Roeper, Kristen E. Rohli, Elizabeth Rosenfeld, Paul Thornton, Julie Raskin   +8 more
doaj   +1 more source

Complex aortic valve repair in congenital patients: clinical feedback

Frontiers in Pediatrics
IntroductionIn the congenital population, particularly in young adults, the best strategy for aortic valve surgery has not been clearly established. This study investigates the mortality, perioperative morbidity and echocardiographic evolution of complex
Marie-Anne Barbier, Nicolae Cristian Bulescu, Olivier Metton, Lea Bou Karam, Caroline Martin Bonnet, Anne Moulin Zinsch, Marc Lilot, Roland Henaine   +7 more
doaj   +1 more source

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source

Machine Learning‐Driven Design of Multicomponent Bone Inorganic Matrix Mimicking Scaffolds for Osteogenesis Enhanced by Neurogenesis

Advanced Science, EarlyView.
Schematic illustration of development of experimental datasets and algorithm models, screening and preparation of the scaffolds and their applications in vivo. ABSTRACT Bone defects require materials with osteogenic, neurogenic, and angiogenic activity, yet designing such materials within high‐dimensional compositional spaces remains challenging. Here,
Kunlu Lin, Ying Yang, Chuyao Zhou, Hanyue Mao, Zhiquan Zhang, Libangxi Liu, Xiaoying Yu, Haoming Liu, Long Liu, Xiaoyan Wang   +9 more
wiley   +1 more source

Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake

, 2015
PURPOSE: Although a nation-wide salt iodization program on voluntary basis was implemented in 2005, many areas in our country are still characterized by mild iodine deficiency.
Olivieri, A, Medda, E, SALERNO, MARIACAROLINA, Radetti, G, Italian Study Group for Congenital Hypothyroidism   +4 more
core   +1 more source

Congenital Heart Disease [PDF]

, 2018
Congenital Heart Disease is a general term for a range of birth defects that affect the normal workings of the heart. It is one of the most common types of birth defect occurring in 1% of live births and affects up to 9 in every 1,000 babies born in the ...

core   +1 more source

Regulating Cells Fate and Function to Facilitate Bone Regeneration via Designing Programmable Bio‐Interactive Materials

Advanced Science, EarlyView.
This article aims to elucidate the biological mechanisms of bone repair and the evolution of material design, highlighting key cellular and molecular processes. It further proposes strategies and prospects for programmable bio‐interactive materials, which enable precisely guided bone tissue regeneration by dynamically regulating cell behavior and the ...
Qingrui Fan, Fuming Cao, Junqiang Mao, Pengbin Yin, Licheng Zhang, Jianjun Wang, Peifu Tang   +6 more
wiley   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL, Krone, Nils P, Green, Jane, Nuernberg, Peter, Tomlinson, Jeremy W, Begeot, Martine, Nuernberg, Gudrun, Racine, Michael, Clark, Adrian JL, Achermann, John C, Huebner, Angela, Lin, Lin, Halaby, George, Metherell, Louise A, Naville, Danielle, Berney, Dan M   +50 more
core   +1 more source