Results 71 to 80 of about 21,951,469 (257)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Hb Osu-christiansborg [β52(d3)asp→asn]: A De Novo Mutation In Brazil

, 2015
[No abstract available]2816568Konotey-Ahulu, F.I.D., Kinderlerer, J.L., Lehmann, H., Ringelhann, B., Haemoglobin Osu-Christiansborg: A new β-chain variant of haemoglobin A (β52 (D3) aspartic acid → asparagine) in combination with Haemoglobin S (1971) J ...
Rodrigues De Souza L., Sonati M.D.F., Albuquerque D.M., Kimura E.M., Ferreira Costa F.   +4 more
core   +1 more source

A Mechanism of crystallization process of hemoglobin S

Revista Integración, 2009
It has been studied as the qualitative consequence of a proposed mechanism of reaction for the formation of HbS molecular aggregations, as well as the mathematical model associated with it, for the particular case that the process of crystallization ...
Carlos Cabal Mirabal, Ivan Ruiz Chaveco
doaj  

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Evidence for multiple differing cation binding sites on hemoglobin A and S

, 1981
Some divalent cations (at 10(-3)M concentration) have been shown to act as oxygen-linked ligands. The effect of Ca++ (only on hemoglobin S) and Zn++ (on normal hemoglobin and hemoglobin S) can be traced to a preferential binding of these cations to the ...
Santucci, R, SANTUCCI, ROBERTO, Condò, S, Antonini, E., Civalleri, L, Amiconi, G, Ascoli, F, CONDO', SAVERIO GIOVANNI, Antonini, E   +8 more
core  

Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal, Gowtham Yerneni, Kim J. Griffin, Nicolas Thompson, Ken Uchino, Irene Katzan, Dolora Wisco, Abeer Farrag, Jayashree Sundarajan, Andrew Russman, M. Shazam Hussain   +10 more
wiley   +1 more source

Developing and Evaluating a Laboratory‐Based Frailty Index for the Prediction of Long‐Term Health Outcomes in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical FI. Methods We used data from a single‐center prospective cohort of adult patients with SLE whose baseline visit ...
Grace Burns, Samuel D. Searle, Alexandra Legge   +2 more
wiley   +1 more source

Hydroxyurea Promotes The Reduction Of Spontaneous Bfu-e To Normal Levels In Ss And S/β Thalassemic Patients

, 2015
We have studied the effects of hydroxyurea on growth and differentiation of early erythroid progenitor cells (BFU-e) from peripheral blood of sickle cell disease patients (five SS and two Hb S/β-thalassemia) in the presence or absence of exogenous ...
Bincoletto C., Queiroz M.L.S., Costa F.F., Saad S.T.O., Perlingeiro R.C.R.   +4 more
core   +1 more source

Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira

Cadernos de Saúde Pública
A triagem populacional de heterozigotos assintomáticos para fins de orientação genética é um procedimento bastante controvertido, por envolver o risco de rotulação, discriminação, estigmatização, perda de auto-estima e invasão de privacidade. Assim sendo,
Roberto Benedito de Paiva e Silva, Antonio Sérgio Ramalho   +1 more
doaj  

Rheumatoid Arthritis and Coronary Artery Calcium Progression: A Case Cohort Analysis From ELSA‐Brasil

Arthritis Care &Research, EarlyView.
Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada, Marcos Rafael N. Cavalcante, Itamar de Souza Santos, Márcio S. Bittencourt, Vandrize Meneghini, Paulo A. Lotufo, Alessandra C. Goulart, Isabela M. Bensenor   +7 more
wiley   +1 more source