Results 141 to 150 of about 5,810,137 (395)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

The Online Generation Gap: Contrasting Attitudes and Behaviors of Parents and Teens [PDF]

open access: yes, 2012
This report explores the online generation gap between parents and teens and reveals a number of disparities in their views about online safety. Among the 511 teens and 500 parents who were polled in the online survey, there were major discrepancies ...

core  

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Roy’s Adaptation Model and the Dual Process Model of Grieving substantiating palliative nursing care to the family

open access: yesO Mundo da Saúde, 2017
One of the principles of palliative care is to assist in identifying and mobilizing a support system to help the family deal with the patient’s illness and his or her own grief. In this perspective, the objective of this study was to propose a reflection
Vladimir Araujo da Silva   +3 more
doaj  

Child–parent interaction in relation to road safety education : Part 2 – main report [PDF]

open access: yes, 2008
• Children and young people are particularly vulnerable road users. • Child pedestrian injury rates are poor compared with the rest of Europe. • The factors that impact on children’s road safety and their capability in traffic are numerous, multi-faceted
Ayrton, Rebecca   +6 more
core  

Understanding Mechanisms of Whole Brain and Regional Grey Matter Atrophy in Children With MOGAD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the mechanisms driving whole brain and regional grey matter (GM) volume changes along with their clinical correlates in paediatric myelin oligodendrocyte glycoprotein antibody (MOG‐Ab)–associated disease (MOGAD). Methods One‐hundred‐nine paediatric MOGAD patients from two UK centres underwent MRI at attack nadir and ...
Ermelinda De Meo   +14 more
wiley   +1 more source

When a Parent Is Incarcerated: A Primer for Social Workers [PDF]

open access: yes, 2011
Offers guidance on meeting the needs of children of incarcerated parents, including reducing trauma, engaging incarcerated parents, re-entry planning, addressing domestic violence, and issues for parents in deportation proceedings.
Ken Borelli, Yali Lincroft
core  

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang   +11 more
wiley   +1 more source

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