Results 221 to 230 of about 624,789 (324)

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Surgical and anatomical nuances in trigeminal neuralgia due to cerebellopontine angle lipoma: illustrative case. [PDF]

J Neurosurg Case Lessons
Domingo RA, Isidor J, Martinez JL.
europepmc   +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

Arthritis &Rheumatology, Volume 78, Issue 9, Page 1837-1849, September 2026.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan, Emma R. Dorris, Maria Inês Pimenta, Jemma Falkov, Matthew Fisher, Sam Pledger, Hector Devey, Munitta Muthana, Denis C. Shields, Richard E. Mains, Betty A. Eipper, Christopher D. Buckley, Anthony G. Wilson   +12 more
wiley   +1 more source

A Case of Voltage-Gated Calcium Channel and TG6 Antibody-Positive Cerebellar Ataxia. [PDF]

Case Rep Neurol Med
Cifelli A, Butt Z, Cifelli E, Hadjivassiliou M.   +3 more
europepmc   +1 more source

Natural Compounds Targeting Oncogenic Signaling Networks in Glioblastoma: Molecular Mechanisms, Translational Advances, and Clinical Perspectives

Brain and Behavior, Volume 16, Issue 9, September 2026.
Glioblastoma (GBM) is a highly aggressive brain tumor with a poor prognosis, driven by abnormal signaling pathways that promote growth and resistance to treatment. Conventional therapies are inadequate, highlighting the need for novel multitargeted approaches.
Mehrukh Zehravi, Md Abul Hassan, Md. Al Amin, Sherouk Hussein Sweilam, Jeetendra Kumar Gupta, Ramenani Hari Babu, Pericharla Venkata Narasimha Raju, Krishna Vamsi Kandimalla, Phanindra Erukulla, Patibandla Jahnavi, Rajeshwar Vodeti, Abdul Ajeed Mohathasim Billah, Safia Obaidur Rab, Sharuk L. Khan   +13 more
wiley   +1 more source

Investigation of the relationship between the cephalic index and the tentorium cerebelli: A retrospective study. [PDF]

Medicine (Baltimore)
Vatansever A, Erçakmak Güneş B, Günenç Beşer C, Gümeler E, Mut M.   +4 more
europepmc   +1 more source

Severe Multiorgan Failure Triggered by Infection in an Adult With Decades of Untreated Sickle Cell Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT A 67‐year‐old man with decades of untreated sickle cell disease developed septic shock with multiorgan failure, splenic infarction, and marrow fibrosis; his genotype could not be confirmed. He recovered with intensive supportive care, with hydroxyurea initiated for long‐term disease modification, illustrating catastrophic infection‐triggered ...
Sara Shahidi, Gisha Mohan
wiley   +1 more source

Clinical Spectrum of Anti-SEZ6L2 Syndrome: A Case Report With Brain Volumetry and Systematic Literature Review. [PDF]

Neurol Neuroimmunol Neuroinflamm
Habicht JL, Cammá G, Wurdack K, Teegen B, Prüss H, Finke C.   +5 more
europepmc   +1 more source

Pediatric Trapped Fourth Ventricle: The Need for Objective Surgical‐Selection Criteria and Long‐Term Surveillance After Open Fenestration

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Open fenestration can be an effective treatment for pediatric trapped fourth ventricle, but case reports should move beyond successful short‐term decompression. Future reports should include objective surgical‐selection criteria, intraoperative confirmation of adhesions, standardized imaging metrics, and long‐term surveillance end points to ...
Muhammad Abdullah Awan, Hammad‐ud‐din Raza   +1 more
wiley   +1 more source