Results 141 to 150 of about 48,314 (255)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Case Report: Extranodal marginal zone B-cell lymphoma in the lateral ventricle: literature review. [PDF]

Front Oncol
Xue Y, Li Z, Cui Y, Li G, Chang Q, Jia C, Du J.   +6 more
europepmc   +1 more source

Evaluation of CSF and plasma tau species as fluid surrogate candidates for tau PET in prodromal to moderate Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract INTRODUCTION Positron emission tomography (PET) is a valuable tool for assessing tau pathology in Alzheimer's disease (AD), but it is not widely accessible. Clarifying the relationship between fluid tau species and tau PET in AD may allow for the identification of fluid biomarkers that could serve as more accessible surrogates for tau PET ...
Julie Lee, Emily Olafson, Balazs Toth, Ellen Casavant, Stephen Schauer, Tobias Bittner, Matthew R. Meyer, Philip B. Verghese, Venky Venkatesh, Tim West, Joel B. Braunstein, Anne Biever, Emilia Calderon, Melanie Mandl, Anna Bayfield, Casper C. Hoogenraad, Edmond Teng, Cecilia Monteiro, Veronica G. Anania, Sandra M. Sanabria Bohórquez, Felix L. Yeh   +20 more
wiley   +1 more source

Early detection of tamoxifen-induced retinal injury: ellipsoid zone reflectivity as a sensitive structural marker. [PDF]

BMC Ophthalmol
Unlu BH, Koksaldı S, Durmaz Engin C, Varol U.   +3 more
europepmc   +1 more source

Greater choroid plexus volume is linked to poor sleep, neurodegeneration, and cognitive deficits in older adults: Evidence from the IGNITE Study

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract INTRODUCTION Poor sleep is associated with neurodegenerative disease, but mechanisms are unclear. Greater volume of the choroid plexus (ChP), a brain structure supporting neurotoxic waste clearance, is linked to neurodegeneration and cognitive decline.
Miranda G. Chappel‐Farley, Kelsey R. Sewell, Audrey M. Collins, Cristina Molina‐Hidalgo, Shivangi Jain, Haiqing Huang, Patricio Solis‐Urra, Lauren E. Oberlin, George Grove, Arthur F. Kramer, Edward McAuley, Jeffrey M. Burns, Charles Hillman, Eric D. Vidoni, Bradley P. Sutton, Anna L. Marsland, M. Ilyas Kamboh, Chaeryon Kang, Lu Wan, Kirk I. Erickson, Kristine A. Wilckens   +20 more
wiley   +1 more source

Specific Deletion of Interleukin‐1 Beta in Microglia Improves Acute Outcome and Modulates Neurogenesis After Ischemic Stroke

Glia, Volume 74, Issue 7, July 2026.
Microglial IL‐1β deletion improves acute outcome and reduces neutrophil recruitment after experimental ischemic stroke. Microglial IL‐1β deletion increases neurogenesis in the subventricular zone after experimental ischemic stroke. ABSTRACT Interleukin‐1 (IL‐1) signaling is a major driver of post‐ischemic neuroinflammation, yet the cell‐ and isoform ...
Alba Grayston, Margarida Baptista, Kelly Wemyss, Ruby Taylor, Grace Cullen, Syeda S. Jafree, Nadim Luka, Joshua R. Cox, Joanne E. Konkel, David Brough, Stuart M. Allan, Emmanuel Pinteaux   +11 more
wiley   +1 more source

Assessment of Macular Choroidal Thickness via Enhanced Depth Imaging Optical Coherence Tomography in Patients With Chronic Tinnitus. [PDF]

J Ophthalmol
Sung YC, Chang YC, Chu WL, Chen KJ, Cheng KC.   +4 more
europepmc   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, Volume 54, Issue 6, Page 1335-1348, July/August 2026.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Clinical and imaging features of SMACH. [PDF]

BMC Ophthalmol
Jeon J, Kwak JJ, Seoung HJ, Kim J, Byeon SH, Kim SS, Woo SJ, Lee CS.   +7 more
europepmc   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source