Results 61 to 70 of about 1,149,362 (252)

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay   +13 more
wiley   +1 more source

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

open access: yes, 2022
BACKGROUND: Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the mean age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic ...
International Mismatch Repair Consortium,
core   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright   +10 more
wiley   +1 more source

Bibliometric analysis of immune dysregulation and immunotherapy in mismatch repair-deficient colon cancer

open access: yesDiscover Oncology
Background Mismatch repair deficiency (dMMR) is observed in 12–15% of sporadic colon carcinomas. dMMR tumors have unique genetic characteristics, with mutation rates 10 to 100 times higher than those of tumors with intact mismatch repair functions ...
Xingtao Jin   +7 more
doaj   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park   +5 more
wiley   +1 more source

Transcription-Coupled Repair Deficiency and Mutations in Human Mismatch Repair Genes

open access: yes, 1996
Deficiencies in mismatch repair have been linked to a common cancer predisposition syndrome in humans, hereditary nonpolyposis colorectal cancer (HNPCC), and a subset of sporadic cancers. Here, several mismatch repair-deficient tumor cell lines and HNPCC-
Mellon, I.   +4 more
core   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram   +3 more
wiley   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang   +7 more
wiley   +1 more source

Intratumoral budding as a potential parameter of tumor progression in mismatch repair-proficient and mismatch repair-deficient colorectal cancer patients

open access: yes, 2011
In colorectal cancer, tumor budding at the invasive front (peritumoral budding) is an established prognostic parameter and decreased in mismatch repair-deficient tumors.
Patsouris, Efstratios S   +17 more
core   +1 more source

Fruits, vegetables, and hMLH1 protein-deficient and -proficient colon cancer: The Netherlands cohort study. [PDF]

open access: yes, 2005
BACKGROUND: Clinical and pathologic differences exist between colon carcinomas deficient and proficient in the mismatch repair protein hMLH1. Animal and in vitro studies suggest that fruits, vegetables, folate, and antioxidants are associated with ...
Brandt, P.A. van den   +31 more
core   +3 more sources

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