Results 61 to 70 of about 191,149 (300)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

From collecting an archive to artistic practice in the Intimal project: lessons learned from listening to a Colombian migrant women’s oral history archive

Acervo, 2019
This paper describes a multidisciplinary encounter with oral testimony archives and their incorporation in the artistic research project INTIMAL. It explores ways in which to creatively listen to stories which might be emotionally challenging, and to ...
Ximena Alarcón, Lucia Nikolaia López Bojorquez, Olivier Lartillot, Helga Flamtermesky   +3 more
doaj  

From Fast to Feast: A ritual- liturgical exploration of reconciliation in South African cultural contexts

Verbum et Ecclesia, 2009
Cas Wepener is a brilliant and committed young liturgist. This book is based on his doctoral thesis in the Afrikaans language (Stellenbosch University 2004), roughly double the length of this published From Fast to Feast, but this book is a fundamental ...
Hennie J.C. Pieterse
doaj   +1 more source

Truth And Reconciliation Commissions [PDF]

, 1998
Truth and reconciliation commissions have played a critical role in a number of countries that had to come to terms with a past marked by protracted conflict, civil strife, violence, and massive human rights abuse.
Schlunck, Angelika
core   +1 more source

Risk of Non‐Arteritic Anterior Ischemic Optic Neuropathy in Idiopathic Intracranial Hypertension Patients Treated with GLP‐1 Receptor Agonists

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi, Mohanad A. Alkuwaiti, Yazeed B. Alaql, Ahmed K. Alsaif, Ahmed A. Alessa, Meshari Ayed Alharbi, Mohammed Alfalah, Saud A. Alnaaim, Sajjad M. AlHaddad, Ahmed Y. Azzam   +9 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Reconciliation: a gift from God

Verbum et Ecclesia, 2008
Reconciliation: a gift from GodThis article analyses the work of reconciliation based on Prof P Meiring, especially his work with the Truth and Reconciliation Commission.
M Masango
doaj   +1 more source

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

Annals 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, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

A Bridge to Reconciliation: A Critique of the Indian Residential School Truth Commission

International Indigenous Policy Journal, 2010
In the past year, the Government of Canada has established the Indian Residential Schools (IRS) Truth and Reconciliation Commission (TRC) to address the deleterious effect that the IRS system has had on Aboriginal communities.
Marc A. Flisfeder
doaj