Results 91 to 100 of about 1,384,630 (286)

DNA Hydroxymethylation at the Interface of the Environment and Nonalcoholic Fatty Liver Disease. [PDF]

open access: yes, 2019
Non-alcoholic fatty liver disease (NAFLD) is one of the most prevalent forms of chronic liver disorders among adults, children, and adolescents, and a growing epidemic, worldwide.
Besaratinia, Ahmad, Tommasi, Stella
core   +1 more source

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack   +12 more
wiley   +1 more source

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]

open access: yes, 2018
Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni   +11 more
core   +1 more source

Improved Outcomes for Older Children, Adolescents, and Young Adults With Neuroblastoma in the Post‐Immunotherapy Era: An Updated Report From the International Neuroblastoma Risk Group

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background We describe clinical and biologic characteristics of neuroblastoma in older children, adolescents, and young adults (OCAYA); describe survival outcomes in the post‐immunotherapy era; and identify if there is an age cut‐off that best discriminates outcomes.
Rebecca J. Deyell   +14 more
wiley   +1 more source

The role and therapeutic targeting of α-, β- and γ-secretase in Alzheimer's disease [PDF]

open access: yes, 2015
Alzheimer's disease (AD) is the most common form of dementia in the elderly and its prevalence is set to increase rapidly in coming decades. However, there are as yet no available drugs that can halt or even stabilize disease progression. One of the main
Baillie, George S.   +3 more
core   +1 more source

Item Response Modeling and Artificial Neural Network for Differentiation of Parkinson's Patients and Subjects Without Evidence of Dopaminergic Deficit

open access: yesCPT: Pharmacometrics & Systems Pharmacology
Approximately 15% of patients suspected of having Parkinson's disease (PD) present dopamine active transporter (DaT) scans without evidence of dopaminergic deficits (SWEDD), most of which will never develop PD.
Leticia Arrington   +3 more
doaj   +1 more source

An Evaluation of a Battery of Functional and Structural Tests as Predictors of Likely Risk of Progression of Age-Related Macular Degeneration. [PDF]

open access: yes, 2018
Purpose: To evaluate the ability of visual function and structural tests to identify the likely risk of progression from early/intermediate to advanced AMD, using the Age-Related Eye Disease Study (AREDS) simplified scale as a surrogate for risk of ...
Bailey, C.   +3 more
core   +3 more sources

Developmental Disorders in Children Recently Diagnosed With Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Neurocognitive deficits in adult survivors of childhood cancer are well established, but less is known about developmental disorders (DD) arising shortly after cancer diagnosis. Using 2016–2019 linked Ohio cancer registry and Medicaid data, we compared DD among 324 children with cancer and 606,913 cancer‐free controls.
Jamie Shoag   +5 more
wiley   +1 more source

Evolution of lung pathology in lymphangioleiomyomatosis: associations with disease course and treatment response

open access: yesThe Journal of Pathology: Clinical Research, 2020
Lymphangioleiomyomatosis (LAM) is a rare multisystem disease with a variable clinical course. The lungs are infiltrated by nodules of LAM cells, stromal cells and inflammatory cells, causing lung cysts and respiratory failure. We used immunohistochemical
Suzanne Miller   +5 more
doaj   +1 more source

DELP Treatment on Vision and Retinal Microcirculation in Patients With Acute Ischemic Stroke: Report of Five Cases and Literature Review

open access: yesTherapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background The delipid extracorporeal lipoprotein filter from plasma (DELP) treatment can effectively reduce blood lipid, increase blood flow, and improve neurological deficits in patients with acute ischemic stroke (AIS). However, its effect on vision and retinal microcirculation in stroke patients has never been reported.
Ning Li   +9 more
wiley   +1 more source

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