Results 191 to 200 of about 37,390 (254)

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source

Eosinophilic Sialodochitis Mimicking Sjögren's Syndrome. [PDF]

Cureus
Sasidharan A, Carter S, Walsh H, Platais C.   +3 more
europepmc   +1 more source

Diagnosing Eosinophilic Chronic Rhinosinusitis in Excised Tissue Using Optical Coherence Tomography

The Laryngoscope, Volume 136, Issue 5, Page 2092-2100, May 2026.
This study evaluated whether optical coherence tomography (OCT) can quantify eosinophils in excised sinonasal tissue and diagnose eosinophilic chronic rhinosinusitis with nasal polyps (ECRSwNP). Counts of globules resembling eosinophils on OCT images strongly correlated with eosinophils per HPF on histology, with a cutoff of 45 globules on OCT imaging ...
Ido Badash, Michael Serafino, Adrian Correa, John S. Oghalai, Bozena Wrobel, Brian E. Applegate, Kevin Hur   +6 more
wiley   +1 more source

Investigation of the pathogenic variants induced Sjogren's syndrome in Turkish population. [PDF]

Open Med (Wars)
Terzi U, Ates I, Erden A, Suzen S, Irham LM, Yilmaz S.   +5 more
europepmc   +1 more source

GPIHBP1 Autoantibody‐Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report two young children with severe hypertriglyceridemia lacking monogenic causes. Both were ANA‐positive, with confirmed anti‐GPIHBP1 antibodies. Immunosuppressive therapy (hydroxychloroquine ± prednisolone) effectively reduced triglycerides. GPIHBP1 autoantibody‐related hypertriglyceridemia is an important pediatric cause, requiring accurate ...
Rai‐Hseng Hsu, Wuh‐Liang Hwu, Feng‐Jung Yang, Ni‐Chung Lee, Yin‐Hsiu Chien   +4 more
wiley   +1 more source

Oral Manifestations of Sjögren's Syndrome: Recognition, Management, and Interdisciplinary Care. [PDF]

Medicina (Kaunas)
Liu SC, Lu MC, Koo M.
europepmc   +1 more source

Real‐World Effectiveness and Safety of Upadacitinib in Crohn's Disease: Insights From the Eneida Registry

United European Gastroenterology Journal, Volume 14, Issue 4, May 2026.
ABSTRACT Background Upadacitinib (UPA) is the first oral Janus kinase (JAK) inhibitor approved for the treatment of Crohn's disease (CD). Real‐world data, particularly from large nationwide cohorts, remain limited. This study aimed to evaluate the real‐world effectiveness, safety, and treatment persistence of UPA in patients with CD.
M. Iborra, B. Botella, M. D. Martín‐Arranz, D. Ceballos, C. Martínez‐Pascual, A. Garrido, P. Varela, M. Moreta, E. Brunet‐Mas, Y. González‐Lama, E. Rodríguez‐González, M. Vicuña, J. P. Gisbert, I. Ordás, F. Argüelles‐Arias, J. Tosca‐Cuquerella, R. Vicente‐Lidón, M. Sierra‐Ausín, I. Rodríguez‐Lago, D. Martín‐Rodríguez, J. M. Paredes, B. Sicilia, I. García de la Filia, N. Jiménez, M. Barreiro‐de Acosta, E. Betoré, I. Ferrer‐Bradley, L. García‐Alles, J. M. Huguet, S. Castellet‐Farrús, M. J. García, A. Gutiérrez‐Casbas, Á. Ponferrada‐Díaz, L. Ramos, M. Calafat, I. Vera, C. Suárez‐Ferrer, E. Fernández‐Velado, S. Rodríguez‐Sánchez, A. Mínguez, A. Mancebo, J. Barrio, S. Lario, D. R. de La Cruz, Alejandro Hernández‐Camba, C. Rodríguez‐Gutiérrez, M. Chaparro, E. Ricart, L. Almenara‐Michelena, A. Balaguer, E. Domènech, P. Nos   +51 more
wiley   +1 more source

Evaluation of patients diagnosed with primary Sjogren's syndrome with and without pulmonary involvement. [PDF]

Sarcoidosis Vasc Diffuse Lung Dis
Ozsoy Z, Ozdemırel TŞ, Ensarıoğlu K, Erturk H, Ozturk Z, Yıldırım H, Akkurt ES, Beyan E, Kalyoncu U, Ozyurek BA.   +9 more
europepmc   +1 more source

Risk of Safety Events in Vitiligo Patients: A Retrospective Real‐World Data Study in the US

The Journal of Dermatology, Volume 53, Issue 5, Page 758-773, May 2026.
ABSTRACT Vitiligo is a chronic autoimmune depigmenting disease characterized by loss of pigment in the skin, hair, or both. As treatment options evolve, particularly with the emergence of oral Janus kinase inhibitors and dual Janus kinase 3/tyrosine kinase expressed in hepatocellular carcinoma family kinase inhibitor, it is essential to assess ...
Kennedy Cook, Nada M. Elbuluk, Roni Adiri, Alexandre Lejeune, Thomas Edwards, Milena A. Gianfrancesco, Scott P. Kelly, Tatjana Lukic, Edward Nagy, Samantha K. Kurosky, Lynne Napatalung, Iltefat Hamzavi   +11 more
wiley   +1 more source