Results 71 to 80 of about 514,902 (292)

SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome

Biomarker Research, 2017
Myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndrome has been described since the 2001 WHO classification as disorders that have both proliferative and dysplastic changes simultaneously.
Katherine Linder, Chaitanya Iragavarapu, Delong Liu   +2 more
doaj   +1 more source

Gender effects on cytidine analogue metabolism and myelodysplastic syndrome treatment outcomes [PDF]

, 2012
In vivo, half-lives of cytidine analogues such as 5-azacytidine and decitabine, used to treat myelodysplastic syndromes (MDS), are determined largely by cytidine deaminase (CDA), an enzyme that rapidly metabolizes these drugs into inactive uridine ...
Ania Jankowska, Jaroslaw Maciejewski, Joseph Covey, Kenneth Chan, Kory Engelke, Mikkael Sekeres, Pramod Terse, Quteba Ebrahem, Ramon Tiu, Reda Mahfouz, Tomas Radivoyevitch, Yogen Saunthararajah, Yonghua Ling, Zhenbo Hu   +13 more
core   +1 more source

Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]

, 2016
Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D., Capra, Valeria, Cheng, Guo, Cherny, Stacey S., De Marco, Patrizia, Garcia-Barcelo, Maria-Mercè, Merello, Elisa, Porsch, Robert M., Rodriguez, Laura, Sham, Pak C., So, Manting, Tam, Paul K.   +11 more
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Central retinal artery occlusion and non-arteritic anterior ischemic optic neuropathy associated with an overlap syndrome: a case report

Journal of Medical Case Reports, 2008
Introduction An "overlap syndrome" is defined as the sequential appearance over time of two or more risk factors for glaucomatous damage. The appearance of a new risk factor can alter the course and prognosis of previously stable disease.
Lima Verônica C, Prata Tiago S, Liebmann Jeffrey M, Ritch Robert   +3 more
doaj   +1 more source

Therapeutic alternatives with CPAP in obstructive sleep apnea [PDF]

, 2019
Obstructive Sleep Apnea (OSA), characterized by airflow cessation (apnea) or reduction (hypopnea) due to repeated pharyngeal obstructions during sleep, causes frequent disruption of sleep and hypoxic events. The condition is linked to many adverse health
Aluas, Maria, Bordea, Roxana I, Budin, Corina E, Ciumarnean, Lorena, Cozma, Angela, Gergely, Bianca D, Maierean, Anca, Man, Milena, Rajnovean, Ruxandra   +8 more
core   +3 more sources

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

The Risk Factors and Predictors of Chronic Obstructive Pulmonary Disease in Patients With Obstructive Sleep Apnea–Hypopnea Syndrome at Plateau

The Clinical Respiratory Journal
Background OSAHS patients with COPD (i.e., overlap syndrome) have a significantly worse prognosis than those with OSAHS alone, and the role of plateau hypoxia in the occurrence of the disease is still unclear.
Yumei Geng, Yu Hu, Bin Li, Zhuoma Dawa, Fang Zhang   +4 more
doaj   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Cognitive dysfunction in patients with cerebral microbleeds on T2*-weighted gradient-echo MRI.

, 2004
Gradient echo T2*-weighted MRI has high sensitivity in detecting cerebral microbleeds, which appear as small dot-like hypointense lesions. Microbleeds are strongly associated with intracerebral haemorrhage, hypertension, lacunar stroke and ischaemic ...
Brown, Martin M, Cipolotti, Lisa, Coward, Lucy J, Frazer, Duncan W, Jäger, H Rolf, Losseff, Nick A, Watt, Hilary, Werring, David J   +7 more
core   +1 more source