Results 51 to 60 of about 276,553 (236)

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

open access: yesClinical Genetics, EarlyView.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya   +7 more
wiley   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón   +33 more
wiley   +1 more source

Long‐term survival after adult epilepsy surgery: Mortality and predictors in a large cohort

open access: yesEpilepsia, EarlyView.
Abstract Objective Long‐term survival data in adults undergoing surgery for drug‐resistant focal epilepsy remain limited. We examined mortality patterns and predictors in a large cohort followed for over 30 years. Methods Adults who underwent epilepsy surgery (1990–2022) were analyzed.
Giorgio Fiore   +6 more
wiley   +1 more source

Measuring Direct Oral Anticoagulant (DOAC) Levels: Applications, Limitations, and Future Directions

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction There are important challenges with the measurement and interpretation of direct oral anticoagulant (DOAC) anticoagulant effect including a lack of therapeutic ranges, inaccuracy of routinely available coagulation assays, lack of established thresholds for clinically significant effect, and uncertainty about how to apply the ...
Siraj Mithoowani   +2 more
wiley   +1 more source

Arteriovenous Malformation

open access: yesPediatric Neurology Briefs, 1987
Three children, ages 5 to 9 years, with A-V malformations that ruptured after trivial head trauma, are reported from the Departments of Neurosurgery, University Medical School and Red Cross Hospital, Kumamoto City, Japan.
openaire   +3 more sources

Selective contralesional constructional hemi‐apraxia after unilateral brain damage: Which relationship with unilateral spatial neglect?

open access: yesJournal of Neuropsychology, EarlyView.
Abstract We describe a peculiar contralesional drawing disorder in three patients affected by focal brain lesions, who did not show signs of unilateral neglect at standard clinical assessment, including the star cancellation test. This picture, that could be termed selective constructional hemi‐apraxia (CHA), could follow both right and left‐hemisphere
Francesco Panico   +3 more
wiley   +1 more source

Lipoma of the Buccal Fat Pad: Systematic Review and Report of a Case

open access: yesOral Surgery, EarlyView.
ABSTRACT Introduction Lipomas in the oral cavity are uncommon, defined by the abnormal proliferation of mature adipocytes. When they arise from the buccal fat pad (BFP), these lipomas frequently impact both the cosmetic appearance and the functional aspects of the face. Objectives The aim of the present review is to investigate the incidence of the BFP
Silvia D'Agostino   +2 more
wiley   +1 more source

Home - About - Disclaimer - Privacy