Results 71 to 80 of about 193,234 (311)

Hydrogel platforms for 3D cardiac tissue engineering and fibrotic disease modelling

open access: yesFEBS Open Bio, EarlyView.
Hydrogel‐based cardiac tissue models are advancing our understanding of heart health and disease. By incorporating electrical conductivity, aligned structures, and tunable mechanical properties, these platforms better replicate the complex environment of native heart tissue.
Harrison Porritt   +2 more
wiley   +1 more source

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

open access: yes, 2016
Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome.
Ramineni, Anand, Coman, David
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach   +23 more
wiley   +1 more source

Familial Chiari malformation: case series

open access: yes, 2011
Chiari malformations (Types I–IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%–0.5%.
Jean-Valery C. E. Coumans   +5 more
core   +1 more source

PCSK9 Loss‐of‐Function Disrupts Cellular Microfilament Network via LIN28A/HES5/JMY Axis in Neural Tube Defects

open access: yesAdvanced Science
Neural tube defects (NTDs) are complex multigenic disorders and are the most prevalent and severe congenital malformations that affect the central nervous system.
Xiaoshuai Li   +6 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou   +16 more
wiley   +1 more source

Proteus Syndrome with Arteriovenous Malformation

open access: yes, 2017
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth.
Nabet Tajmir Riahi   +4 more
core   +1 more source

How Frequently Does out-of Hospital Sudden Unexpected Infants Death Represent the Sudden Infant Death Syndrome?

open access: yesПедиатрическая фармакология, 2020
Background. 19.6 % of all fatal cases among Russian children who died in the first year of life are registered out-of hospital, and they are usually sudden. Out-of-hospital sudden unexpected infant death (OSUID) could be confused with sudden infant death
Lika L. Nisevich   +6 more
doaj   +1 more source

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig   +9 more
wiley   +1 more source

Severe Papilledema Associated With Chiari I Malformation

open access: yes, 2022
Chiari I malformation involves downward displacement of the cerebellar tonsils through the foramen magnum. Though rare, papilledema has been attributed to Chiari I malformation, and in a few cases surgical decompression has been shown to resolve the ...
Elena Muro-Fuentes; Gregory Van Stavern; Leanne Stunkel
core  

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