Results 61 to 70 of about 54,540 (236)

Congenital erythropoietic porphyria with hemolytic anemia

Indian Journal of Dermatology, 2005
A 15 year old boy with clinical, hematological and biochemical profile of congenital erythropoietic porphyria with hemolytic anemia is being reported in view of the rarity of this condition.
Massod Qazi, Hassan Iffat, Khan Dilshad, Sameem Farah, Quadri M, Hussain S, Majid Sabiya   +6 more
doaj  

Pyruvate kinase deficiency: A case series of congenital non-spherocytic hemolytic anemia

Pediatric Hematology Oncology Journal
Background: Pyruvate kinase deficiency (PKD) is a common cause of congenital non-spherocytic hemolytic anemia (CNSHA). The heterogeneity of clinical presentation complicates the diagnosis and management of this disease.
A.C. Shreyas, M. Jyothi, Vandana Bharadwaj, Anand Prakash   +3 more
doaj   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report

Journal of Medical Case Reports, 2018
Background Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and ...
Valter Romão de Souza, Ana Beatriz Cavalcante de Oliveira, Ana Maria Vanderlei, Amanda Queiroz da Mota Silveira Aroucha, Bruna Pontes Duarte, Aureli Nunes Machado, Lívia Netto Chaer, Cláudia Wanderley de Barros Correia, Maria da Conceição de Barros Correia, Manuela Freire Hazin Costa   +9 more
doaj   +1 more source

Management of Kaposiform Haemangioendothelioma—A Retrospective Case Series Examining the Use and Effectiveness of Vincristine

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim Kaposiform haemangioendothelioma is a rare vascular tumour. Management has evolved over the last two decades, with most cases receiving vincristine or sirolimus. We aim to describe our experience with managing this tumour, with a focus on the safety and efficacy of vincristine.
Bronwen Kirk, Susan Adams, Orli Wargon, Artiene Tatian, Susan Russell   +4 more
wiley   +1 more source

Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia

Journal of Pediatric Surgery, 2015
Purpose The purpose of this study was to define the hematologic response to total splenectomy (TS) or partial splenectomy (PS) in children with hereditary spherocytosis (HS) or sickle cell disease (SCD).
B. Englum, J. Rothman, S. Leonard, A. Reiter, C. Thornburg, M. Brindle, N. Wright, M. Heeney, C. Smithers, Rebeccah L. Brown, T. Kalfa, J. Langer, M. Cada, K. Oldham, J. Scott, Shawn D. St. Peter, Mukta Sharma, A. Davidoff, K. Nottage, K. Bernabe, D. Wilson, S. Dutta, B. Glader, S. Crary, M. Dassinger, Levette N. Dunbar, S. Islam, Manjusha Kumar, F. Rescorla, S. Bruch, A. Campbell, M. Austin, R. Sidonio, M. Blakely, H. Rice   +34 more
semanticscholar   +1 more source

Association of Childhood Acute Leukemia With Autoimmune Diseases

International Journal of Cancer, Volume 159, Issue 5, Page 1188-1195, 1 September 2026.
A possible link exists between various pediatric autoimmune diseases (AIDs) and increased risk of childhood leukemia. Although immune dysregulation is a key feature of these conditions, the connection between them remains unclear. In this study, using cancer registry data in Finland, the authors examined associations between AIDs and childhood acute ...
Ida Pellikka, Julia Ventelä, Anssi Auvinen, Olli Lohi, Atte Nikkilä   +4 more
wiley   +1 more source

Prevalence of Congenital Hemolytic Disorders in Denmark, 2000–2016

Clinical Epidemiology, 2020
Dennis Lund Hansen,1,2 Andreas Glenthøj,3 Sören Möller,1,4 Bart J Biemond,5 Kjeld Andersen,1,6 David Gaist,1,7 Jesper Petersen,3 Henrik Frederiksen1,2 1Department of Clinical Research, University of Southern Denmark, Odense, Denmark ...
Hansen DL, Glenthøj A, Möller S, Biemond BJ, Andersen K, Gaist D, Petersen J, Frederiksen H   +7 more
doaj  

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report

Frontiers in Genetics, 2020
BackgroundRed cell pyruvate kinase deficiency (PKD) is a defect of glycolysis causing congenital non-spherocytic hemolytic anemia. PKD is transmitted as an autosomal recessive trait.
Karolina Maciak, Anna Adamowicz-Salach, Jaroslaw Poznanski, Monika Gora, Jan Fronk, Beata Burzynska   +5 more
doaj   +1 more source

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, Sayoni Roy Chowdhury, Lindsey Vogt, Jolynn Dickson, Karen Owusu, Pradeep Krishnan, Suvasini Sharma, Liali Aljouda, Reena Pabari, Grace Yoon, Carolina Gorodetsky   +12 more
wiley   +1 more source