Results 51 to 60 of about 120,079,059 (280)

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

Annals 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, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Illness uncertainty, coping, and quality of life among patients with prostate cancer [PDF]

, 2020
Objective Illness uncertainty is a significant source of psychological distress that affects cancer patients' quality of life (QOL). Mishel's uncertainty in illness theory (UIT) proposes that illness uncertainty influences an individual's use of coping ...
Ding‐Geng Chen, Santacroce, Sheila Judge, Ting Guan, Guan, Ting, Chen, Ding-Geng, Song, Lixin, Lixin Song, Sheila Judge Santacroce   +7 more
core   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Research progress of relocation stress syndrome among family members of patients transferred from the ICU (ICU转出患者家属迁移应激的研究进展)

中西医结合护理
Relocation Stress Syndrome (RSS) among family members of patients transferred from the Intensive Care Unit (ICU) is a prevalent psychological issue in critical care.
LI Xiaobin (李晓彬), CHEN Zetao (陈泽涛), LV Wanzhen (吕婉珍), HU Lihong (胡丽红), YUAN Qiuxia (袁秋霞), LIU Xiaofeng (柳晓峰)   +5 more
doaj   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

“Low‐Positive” MOG‐IgG Cases Among Adults With a First Event Suggestive of Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the prevalence and clinical characteristics of patients with “low‐positive” (LP) MOG‐IgG (titres 1:160–1:320) among adults with a first demyelinating event (FDE) suggestive of multiple sclerosis (MS). Methods From the Barcelona CIS inception cohort, we included adult patients with serum collected ≤ 6 months from the FDE.
Javier Villacieros‐Álvarez, Carmen Espejo, Georgina Arrambide, Mireia Castillo, Marta Rodriguez, Helena Ariño, Iker Elosua, Carmen Tur, Angela Vidal‐Jordana, Andreu Vilaseca, Joaquín Castilló, Ingrid Galán, Luciana Midaglia, Carlos Nos, Breogan Rodríguez‐Acevedo, Ana Zabalza, Luca Bollo, Agustín Pappolla, René Carvajal, Neus Mongay‐Ochoa, Jordi Rio, Jaume Sastre‐Garriga, Manuel Comabella, Gesualdina Busiello, Sofia Sceppacuercia, Àlex Rovira, Xavier Montalban, Mar Tintoré, Cristina Auger, Álvaro Cobo‐Calvo   +29 more
wiley   +1 more source

Parents' experiences of living with a child with hydrocephalus: a cross-sectional interview-based study [PDF]

, 2015
Background Shunts, the main treatment for hydrocephalus, are problematic because they frequently malfunction. Detecting shunt malfunction is challenging because symptoms are similar to those of common childhood illnesses, particularly viral infections ...
Bekker, H, Joanna Smith, Hilary Bekker, Smith, Joanna, Bekker, Hilary, Smith, J, Cheater, F, Cheater, Francine, Francine Cheater   +8 more
core   +1 more source

Uncertainty and information management: A meta-analytic review of uncertainty\u27s effects on information management in illness contexts

, 2015
The current dissertation project meta-analyzed 48 studies that examined the effects of uncertainty on information management within illness contexts.
Kuang, Kai
core   +1 more source

Systemic Extracerebral Atherosclerotic Burden and Dementia Risk After Incident Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Stroke survivors are at increased risk of dementia, but clinically accessible markers of risk heterogeneity remain limited. Previous studies have largely examined atherosclerotic disease in individual vascular beds rather than the overall burden of systemic extracerebral atherosclerosis.
Zhexuan Yu, Tianxue Chen, Wei Jin, Weifeng Jin, Haitong Wan   +4 more
wiley   +1 more source