Results 201 to 210 of about 116,069 (304)

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

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

Atorvastatin and almonertinib-induced myopathy in a polypharmacy context: a case report. [PDF]

Front Cardiovasc Med
Zhou J, Yu L, Xu H.
europepmc   +1 more source

A case of canine urothelial carcinoma of the urinary bladder with skull and skeletal metastases

Australian Veterinary Journal, EarlyView.
Canine urinary bladder neoplasia is uncommon, representing less than 1% of canine neoplasms. Amongst cases of urinary bladder neoplasia in dogs, primary urothelial carcinoma is the most frequent. Urothelial carcinomas are malignant invasive tumours which tend to be slow growing and metastasise late.
A Teh, T Sima, E Shinozaki, R Malik
wiley   +1 more source

Clinical spectrum, cardiac phenotypes, and outcomes of FHL1-related cardiomyopathies: a systematic review. [PDF]

BMC Cardiovasc Disord
Bobbio E, Caiazza M, Pisacane F, Viscovo I, Gentile A, Monda E, De Falco C, Esposito D, Borrelli F, Losi M, Bossone E, Chen SN, Frisso G, Calabrò P, Esposito G, Lombardi R, Limongelli G.   +16 more
europepmc   +1 more source

Extraosseous ^99mTc-MDP Uptake Guiding Intraoperative Sampling in Severe Inflammatory Myopathy: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Maharaj M, Sirriram S, Govender N, Govender T, Bhana BD, Korowlay N.   +5 more
europepmc   +1 more source

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

Myocardial involvement in desmin myopathy due to a DES c.1360C > T (p.Arg454Trp) variant. [PDF]

Eur Heart J Case Rep
Wang Y, Yang K, Lu M.
europepmc   +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

Sarcoid Nodular Myopathy Presenting With Hypercalcemia: A Rare Presentation-Case Report. [PDF]

Clin Case Rep
Sadra V, Bahrami A, Mehramuz B, Hamzehzadeh S, Malekian M.   +4 more
europepmc   +1 more source