Results 191 to 200 of about 3,589,195 (283)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

Healing Following Endoscopic Reconstruction of the Anterior Skull Base in Patients With Sinonasal Malignancies

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro   +22 more
wiley   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li   +3 more
wiley   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

open access: yesAnnals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes   +6 more
wiley   +1 more source

Robotic Heineke-Mikulicz strictureplasty for ileal Crohn's disease-A video vignette. [PDF]

open access: yesColorectal Dis
Cigognini M   +5 more
europepmc   +1 more source

Hippocampal Seizure‐Related Burden is Associated with Accelerated Long‐Term Forgetting in Focal Epilepsy

open access: yesAnnals of Neurology, EarlyView.
Objective Memory impairment is a frequent comorbidity of focal epilepsy, incompletely explained by seizure frequency or structural pathology. Ictal and postictal hippocampal dysfunction disrupt memory processes, but their cumulative impact remains poorly quantified.
Ionuț‐Flavius Bratu   +5 more
wiley   +1 more source

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