Results 41 to 50 of about 4,293 (263)

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

Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals

Revista Brasileira de Hematologia e Hemoterapia, 2015
Background: Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known.
Elza Miyuki Kimura, Denise Madureira Oliveira, Susan Elisabeth Jorge, Daniela Maria Ribeiro, Tânia Regina Zaccariotto, Magnun Nueldo Nunes Santos, Vanessa Almeida, Dulcinéia Martins Albuquerque, Fernando Ferreira Costa, Maria de Fátima Sonati   +9 more
doaj   +1 more source

Marked Long‐Term Improvement in Lung Function in Melanoma Differentiation–Associated Protein 5 Antibody–Positive Dermatomyositis Patients: Experience of a Single‐Center Longitudinal Cohort in North America

Arthritis Care &Research, EarlyView.
Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah, Sangmee S. Bae, Tiffany De Leon, Yuna Lee, Rong Guo, David Elashoff, Jennifer Wang, Ani Shahbazian, Christina Charles‐Schoeman   +8 more
wiley   +1 more source

Hb Andrew-Minneapolis Variant in a Turkish Family

Turkish Journal of Hematology, 2023
Hamza Sümter, Soycan Mızrak, Serdar Ceylaner, Duran Canatan   +3 more
doaj   +1 more source

Basic biochemical and hematological parameters of structural hemoglobin variants in the postpartum women and their respective newborn from Manaus, Amazonas, Brazil

BMC Pregnancy and Childbirth, 2022
The present study aimed at estimating the prevalence of structural hemoglobinopathies in newborn and describing the hematological and biochemical characteristics between postpartum women (PW) and their respective newborns (NB) at a public maternity ...
Roberta da Silva Brito, Lecita Marreira de Lima Barros, Lilian Wallace Moreira, Regina Neves Normando, Thiago Bacha de Jesus, Marilda de Souza Gonçalves, Rajendranath Ramasawmy, Stéfani Ferreira de Oliveira, Keyla Emanulle Ramos da Silva, Nelson Abrahim Fraiji, Larissa Feitosa da Hora, Rebeca Linhares de Abreu Netto, José Pereira de Moura Neto   +12 more
doaj   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

IS HEMOGLOBIN E GENE WIDELY SPREAD IN THE STATE OF MADHYA PRADESH IN CENTRAL INDIA? EVIDENCE FROM FIVE TYPICAL FAMILIES

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Background: Red cell inherited hemoglobin anomalies are commonly encountered in the central region of India. These cause a public health concern due to high degree of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable ...
R S Balgir
doaj   +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

Protein structure analysis of abnormal hemoglobins; Hb D-Los Angeles, Hb S and Hb G-Coushatta

Medicine Science
Computational methods have been extensively utilized for protein structure prediction and modeling, including hemoglobin. These methods have provided valuable insights into the three-dimensional conformation of hemoglobin, its allosteric regulation, and ...
Onur Ozturk
doaj   +1 more source

Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography

Journal of Pathology of Nepal, 2015
Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies.
R Jha
doaj   +1 more source