Results 181 to 190 of about 47,077 (263)

Human brain matters: Navigating the neuropathology of COVID‐19

Brain Pathology, EarlyView.
Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland, Angelica Scaramuzza, Marianna Bugiani, Wilma D. J. van de Berg, Jinte Middeldorp   +4 more
wiley   +1 more source

Wasteosomes accumulate in periventricular white matter hyperintensities and exhibit complex relationships with mixed pathology, sclerotic index, and perivascular space

Brain Pathology, EarlyView.
In a mixed diagnostic cohort of pathologically diagnosed Alzheimer's disease, cerebrovascular disease, mixed pathology, and control tissue, we connected the histopathological wasteosome profile in periventricular (PV) brain sections to 7T FLAIR‐MRI confirmed PV white matter hyperintensities (WMHs), vascular stenosis and perivascular space size ...
Nikita Ollen‐Bittle, Isabella Boesgaard, Austyn Roseborough, Meaghan Frank, Qi Zhang, Stephen H. Pasternak, Robert Hammond, Shawn N. Whitehead   +7 more
wiley   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Visible Tongue Fasciculations With Electromyographic Denervation in Autopsy‐Proven Progressive Supranuclear Palsy Mimicking Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
Hiroyasu Inoue, Yoshihiko Horimoto, Yo Tsuda, Yuta Madokoro, Shoji Kawashima, Akio Akagi, Yasushi Iwasaki, Noriyuki Matsukawa   +7 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

Prenatal Diagnosis, EarlyView.
Christopher Connolly, Brian Muchmore, Mallory Wagner, Zineb Ammous, Mohannad Ibrahim, Catherine E. Keegan, Elizabeth G. Ames   +6 more
wiley   +1 more source

Hypercortisolism: Causes, Consequences and Clinical Significance – A Review of Pathophysiology

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Hypercortisolism or Cushing syndrome is a heterogeneous clinical spectrum caused by chronic glucocorticoid excess, ranging from exogenous Cushing syndrome to rare endogenous aetiologies and the increasingly recognised entity of mild autonomous cortisol secretion (MACS). Physiological cortisol production is tightly regulated by the hypothalamic–
Mohamed Eldib, Francisco Emilio Fierro, Maria Ortega Abad, Ricardo Correa   +3 more
wiley   +1 more source

Fish welfare in a changing world: New developments and current challenges

Journal of Fish Biology, EarlyView.
Abstract The welfare of non‐human animals is central to ethical discussions on animal use, with increasing attention to fish welfare across research, aquaria, aquaculture, and fisheries. This paper reviews current theoretical approaches to animal welfare and recent advances in defining and assessing fish welfare since the seminal paper by Huntingford ...
Sonia Rey Planellas, João L. Saraiva, Eliane Gonçalves‐de‐Freitas, Pablo Arechavala‐Lopez, Bernice Bovenkerk, Michael Breen, Steven J. Cooke, Martin Føre, Lene Northwood, Lars Helge Stien, Sunil Kadri, Chris Noble, Jonatan Nilsson, Fernando Rodriguez, Cosme Salas, Peter Sandøe, Hans van de Vis   +16 more
wiley   +1 more source