Results 91 to 100 of about 48,191 (258)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Anti-SRP myositis: a diagnostic and therapeutic challenge

The Turkish Journal of Pediatrics
Background. Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to ...
Merve Cansu Polat, Didem Ardıçlı, Banu Çelikel Acar, Beril Talim, Nesrin Şenbil, Elif Çelikel   +5 more
doaj   +1 more source

Update on Selected Adverse Events of Concern Following Immunization With Acellular Pertussis Vaccines, a Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim To provide an update paper on evidence of adverse events of concern following immunization (AEFI) with pertussis vaccines, focusing primarily on acellular (aP) vaccines. Methods Evidence was synthesised from epidemiological studies, systematic reviews over recent decades, expert interpretations in reviews from relevant research teams and ...
Lennart Nilsson, Jann Storsaeter
wiley   +1 more source

Review Article: The Impact of the Gut Microbiome on Ulcerative Colitis Pharmacotherapy

Alimentary Pharmacology &Therapeutics, EarlyView.
The gut microbiome modulates ulcerative colitis pharmacotherapy through microbial drug metabolism, immune regulation and altered drug bioavailability. Microbial composition influences response to aminosalicylates, corticosteroids, immunomodulators, biologics and small molecules, while microbiome‐targeted therapies show emerging promise.
Kate Collins, Srinivas Kamath, Rachel H. Davis, Samuel P. Costello, Robert V. Bryant, Alice S. Day, Paul Joyce   +6 more
wiley   +1 more source

Review Article: Immune Effector Cell‐Mediated Enterocolitis Following CAR‐T Cell Therapy—Clinical Features, Pathophysiology and Management

Alimentary Pharmacology &Therapeutics, EarlyView.
Immune effector cell‐mediated enterocolitis is an emerging complication of CAR‐T therapy. This review summarizes its epidemiology, pathophysiology, diagnosis, endoscopic and histopathologic features, and evidence‐based management, emphasizing early recognition, multidisciplinary intervention, and step‐up therapy.
John A. Damianos, Yi Lin, Zongming Eric Chen, Kenneth J. C. Lim, Navreet M. Chowla   +4 more
wiley   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Value of serum muscle enzymes in the differential diagnosis of myopathies

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To explore the expression differences of serum muscle enzymes among different types of myopathies and viral hepatitis. Methods This study enrolled 578 patients with myopathies and 51 patients with viral hepatitis from January to September 2018.
Yuan-yuan MA, Meng YU, Xiao-fang LI, Zhi-ying XIE, Xue-ying LI, Zhe ZHANG, Yun YUAN, Zhao-xia WANG   +7 more
doaj  

Refining the treatment of immune checkpoint inhibitor–associated myocarditis: Challenges, innovations and rechallenge considerations

British Journal of Pharmacology, EarlyView.
Immune checkpoint inhibitor (ICI)‐associated myocarditis has emerged as a severe and clinically complex immune‐related toxicity that poses significant challenges for therapeutic decision‐making in routine cardio‐oncological care. High‐dose corticosteroids remain the first‐line therapy, yet their timing, dosage and tapering require careful clinical ...
Raluca I. Mincu, Lisa Zimmer, Dimitra Vlachopoulou, Elias Haj‐Yehia, Julia Hoffmann, Lars Michel, Elisabeth Livingstone, Dirk Schadendorf, Alpaslan Tasdogan, Matthias Totzeck, Tienush Rassaf   +10 more
wiley   +1 more source

HMGB1 in Septic Muscle Atrophy: Roles and Therapeutic Potential for Muscle Atrophy and Regeneration

Journal of Cachexia, Sarcopenia and Muscle
Currently, the treatment of septic myopathy presents significant challenges with implications for increased mortality rates and prolonged hospitalizations.
Si‐Yuan Qi, Qiqi Wu, Peng‐Hui Xiang, Chao‐Yao Hou, Zhaofeng Kang, Meng‐Qi Chen, Chengla Yi, Xiangjun Bai, Tianyu Li, Zhanfei Li, Wei‐Ming Xie   +10 more
doaj   +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