Results 191 to 200 of about 2,248,909 (304)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Dispersive coupling and dual-mode sensing of a micromechanical resonator. [PDF]

Microsyst Nanoeng
Xia W, Qin J, Lu Y, Chen D, Wang J, Xie B, Chen J.   +6 more
europepmc   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

Weekly Liraglutide for the Management of Intractable Polydipsia and Interdialytic Weight Gain in a Patient on Hemodialysis: A Case Report. [PDF]

Cureus
Mora-Bravo F, Morales PT, Pincay G, Pineda S, Morales B.   +4 more
europepmc   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

Weight and body image during pregnancy: a qualitative study of the experience of pregnant women, midwives and dietitians. [PDF]

Int J Qual Stud Health Well-being
Carrard I, Hammer R, Chevalley Gerber C, Schmied M.   +3 more
europepmc   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Addressing the dual challenge: Managing smoking cessation in patients with diabetes. [PDF]

World J Diabetes
Russo C, Walicka M, Cohen G, Bellanca CM, Geraci G, Caponnetto P, Noviello DE, Chianetta R, George J, Sammut R, Franek E, Polosa R.   +11 more
europepmc   +1 more source

Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz, Carl D. Langefeld, Mary E. Comeau, Miranda C. Marion, Tyler P. Behymer, Lee A. Gilkerson, Padmini Sekar, Weihong Yuan, Vivek Khandwala, Brady J. Williamson, Thomas Maloney, Achala Vagal, Pierce Boyne, Kari Dunning, Matthew L. Flaherty, Steven J. Kittner, Prachi Mehndiratta, Gunjan Y. Parikh, Michael L. James, David Roh, Fernando D. Testai, Farhaan S. Vahidy, James Thornton, Ranjit Bagga, Daniel Woo, Stacie L. Demel   +25 more
wiley   +1 more source