Results 171 to 180 of about 31,118 (262)

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

Thrombosis in Neuromuscular Medicine: Current Evidence, Unmet Needs, and Future Directions. [PDF]

J Clin Med
Quak ZX, Wang F, Tay SKH, Koh PL, Yap ES, Ng KWP.   +5 more
europepmc   +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

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
europepmc   +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

Lung transplant outcomes in myositis, systemic sclerosis and idiopathic pulmonary fibrosis: a multicentre retrospective analysis. [PDF]

Rheumatology (Oxford)
Chang A, Saleh N, Yu A, Jalaledin DS, Hoa SA, Levy RD, Wilson JM, Poirier CD, Choi J, Yee J, Landon Cardinal O, Kim H, Huang K.   +12 more
europepmc   +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

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders. [PDF]

Int J Mol Sci
Lee CL, Chang YH, Chuang CK, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

Characterization of Antinuclear, Myositis-Specific, and Myositis-Associated Antibodies in a Large Sample of Patients With Idiopathic Inflammatory Myopathies. [PDF]

Cureus
Barbosa RA, Shinjo SK.
europepmc   +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