Results 51 to 60 of about 3,137,982 (258)

Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant

Frontiers in Genetics
BackgroundVanishing white matter disease (VWMD; OMIM 603896), also known as childhood ataxia with central nervous system hypomyelination (CACH), is a rare autosomal recessive leukodystrophy caused by pathogenic variants in the EIF2B gene family (EIF2B1 ...
Jie Zhou, Chunbo Ji, Siqing Ma, Jianying Zhu, Ping Yang   +4 more
doaj   +1 more source

Relationship Between Soluble Urokinase Plasminogen Activator Receptor (suPAR) and Disease Outcome in Adult-Onset Asthma

Journal of Asthma and Allergy, 2022
Taito Niemelä,1 Hannu Kankaanranta,1– 3 Iida Vähätalo,2 Juho Loponen,1,2 Leena E Tuomisto,2 Onni Niemelä,1,4 Mari Hämäläinen,5 Eeva Moilanen,5 Pinja Ilmarinen1,2 1Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland ...
Niemelä T, Kankaanranta H, Vähätalo I, Loponen J, Tuomisto LE, Niemelä O, Hämäläinen M, Moilanen E, Ilmarinen P   +8 more
doaj  

Atopic dermatitis in adults: prevalence, clinical pattern, and contact sensitization [PDF]

Exploration of Asthma & Allergy
Aim: Few reports on atopic dermatitis (AD) in adults from Africa exist in the literature. AD in adults can occur as childhood-onset, in which AD begins in childhood and continues till adulthood, or adult-onset, in which AD develops in adulthood.
Perpetua U. Ibekwe, Eno Ekop, Theresa Otu, Peter Bassi, Bob A. Ukonu   +4 more
doaj   +1 more source

Chapter Advocacy, Adult Learning and the Pursuit of Social Justice

, 2023
The chapter highlights the centrality of advocacy work for adult learners, particularly from marginalised and excluded communities, as a key feature of the work of Lalage Bown and its scope nationally and internationally.
Tuckett, Alan
core   +1 more source

The microbiome in human skin aging

FEBS Letters, EarlyView.
Age‐related skin changes encompass the well‐known visible phenotypic alterations, together with microbiome dysbiosis and a series of molecular aging hallmarks. These hallmarks characterize not only a fully stablished aged phenotype but also the skin aging process itself.
Manuel Huerta Arana, Cornelia Wiegand, Omid Omrani, Mario Fabri   +3 more
wiley   +1 more source

Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report

Frontiers in Behavioral Neuroscience
Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive neurodegenerative disorder caused by pathogenic variants in the GALC gene.
Sifen Xie, Zuying Kuang, Mengqiu Pan, Kanghua Zhang, Jinlong Ye, Bo Li, Sheng Luo, Zhanhang Wang   +7 more
doaj   +1 more source

A case report of a man with adult-onset idiopathic hypogonadotrophic hypogonadism

, 2017
Background Adult-onset idiopathic hypogonadotrophic hypogonadism is a rare condition. It includes men who have no recognizable central nervous system abnormality nor other identifiable cause. They generally demonstrate age-appropriate puberty and normal
Davoren, Peter, Tang, Chee
core   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Adult onset wilms tumor

Radiology Case Reports
Wilms tumor (WT) is the most common primary renal malignancy in the pediatric population and has very good overall survival with contemporary treatment protocols. In contrast, WT in adults is extremely rare and is associated with a poorer prognosis.
Madhangi Parameswaran, MBBS, Alison M. Friedmann, MD, Gregory M. Cote, MD, PhD, Keyan Salari, MD, PhD, Mukesh G. Harisinghani, MD, Rory L. Cochran, MD, PhD   +5 more
doaj   +1 more source

Adult-onset atopic dermatitis

, 2016
Adult-onset atopic dermatitis is still an under recognized condition as there are only few studies regarding this entity. As compared to childhood onset atopic dermatitis, clinical features of adult onset atopic dermatitis are still not categorized ...
Amrinder Jit Kanwar
core   +1 more source