Results 101 to 110 of about 38,097 (208)

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, Volume 11, Issue 4, Page 1227-1236, August 2026.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

DNA Hypomethylation Is Not Cell Intrinsically Toxic to Polycomb Repressive Complex 2 Deficient Malignant Peripheral Nerve Sheath Tumors

Genes, Chromosomes and Cancer, Volume 65, Issue 8, August 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas and the most common cause of disease‐associated death for neurofibromatosis type 1 (NF1) patients. In the context of NF1, MPNSTs develop from benign premalignant precursors and the transition to malignancy is typically accompanied by loss of the polycomb ...
Madilyn R. Stahl, Christopher M. Stehn, Zachary J. Seeman, Christopher Faulk, David A. Largaespada   +4 more
wiley   +1 more source

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, Volume 159, Issue 3, Page 797-808, 1 August 2026.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

PM&R, Volume 18, Issue 8, Page 874-884, August 2026.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager, Collin M. Labak, Anthony N. Baumann, Tyler H. Snodgrass, Zachary A. Cupler   +4 more
wiley   +1 more source

Audiological Characteristics in Vestibular Schwannoma Patients

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 4, Page 401-409, August 2026.
ABSTRACT Objective Vestibular schwannoma (VS) is a benign tumor that originates from the Schwann cells of the vestibular nerve sheath in the internal auditory canal. This retrospective study collected data from patients with VS who underwent surgical treatment to identify their demographic characteristics and audiometric features.
Shan Zeng, Yi‐Yun Lou, Hui‐Qian Yu, Wei‐Dong Zhao, Wen‐Yan Li   +4 more
wiley   +1 more source

"Cornflake nevoid" lesions, mimicking choroidal lesions of neurofibromatosis 1, in the absence of neurofibromatosis 1: An imaging-based hypothesis. [PDF]

Saudi J Ophthalmol, 2023
Papasavvas I, Herbort CP.
europepmc   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Neurofibromatosis tipo 1 y embarazo: consideraciones sobre un caso clínico Neurofibromatosis type 1 and pregnancy: considerations on a clinical case

Revista Médica Electrónica, 2012
Se presenta el caso de gestante de 27 años de edad, afecta de neurofibromatosis tipo 1, diagnosticada preconcepcionalmente, la cual fue atendida en el consultorio del médico de familia no.
Pedro Lorenzo Rodríguez Domínguez, Damarys Hernández Suárez   +1 more
doaj  

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source