Results 141 to 150 of about 87,418 (302)

Red blood cell membrane proteome as a reporter of disease severity, transfusion impact and genetic background in transfusion‐dependent β‐thalassaemia

British Journal of Haematology, EarlyView.
Summary Omics technologies have transformed research in haemoglobinopathies, yet the proteome of RBCs remains largely unexplored in transfusion‐dependent thalassaemia (TDT). In this proteomic analysis, Red blood cell (RBC) membranes from 48 adults with TDT were compared with healthy controls.
Konstantina Theocharaki, Sophia Delicou, Aikaterini Ntzoura‐Kani, Nikolaos Simantiris, Marianna Politou, Veroniki Komninaka, Martina Samiotaki, Jerome Zoidakis, Marianna H. Antonelou   +8 more
wiley   +1 more source

Zieve's Syndrome in a Patient With Alcohol Use Disorder and Alcohol-Associated Cirrhosis: A Case Report and Review of the Literature. [PDF]

Cureus
Albusta N.
europepmc   +1 more source

Deciphering the full spectrum of Castleman diseases based on a cohort of 700 patients in a western country

British Journal of Haematology, EarlyView.
The spectrum of Castleman diseases has expanded over the past three decades. The phenotype of the diseases varies not only among the three major types but also according to the patient ancestry. Summary Under the Castleman disease (CD) eponym, three distinct diseases sharing common pathological features have been described over time.
Eric Oksenhendler, Marion Malphettes, Véronique Meignin, David Boutboul, Lionel Galicier   +4 more
wiley   +1 more source

Cholestatic Hepatitis in Young Migrants Exposed to Fuel Vapours: An Emerging Toxicity From the Mediterranean Sea

Acta Paediatrica, EarlyView.
Antonio Corsello, Simone Maria Calogero Gramaglia, Giuseppe Gramaglia, Gerlando Verruso, Giusy Ranucci   +4 more
wiley   +1 more source

Vitamin B12 Deficiency-Associated Pseudo-Thrombotic Microangiopathy in a Patient on Longstanding Oral B12 Supplementation. [PDF]

Clin Case Rep
Bertucci HK, Moy BM, Stein R.
europepmc   +1 more source

A genetic risk score based on BCL11A and HBS1L‐MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients

British Journal of Haematology, EarlyView.
Summary Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co‐inheritance of genetic variants that regulate globin expression.
Gabriela S. Arcanjo, Alexsandro P. Silva, Madi V. Diniz, Igor F. Domingos, Diego A. Pereira‐Martins, Amanda B. Araújo, Talita S. S. França, Ana C. Anjos, Aderson S. Araujo, Edis Belini‐Junior, Sara T. O. Saad, Fernando F. Costa, Antonio R. Lucena‐Araujo, Marcos André C. Bezerra   +13 more
wiley   +1 more source

Infantile pyknocytosis: A rare but not so rare condition. A new case report. [PDF]

Ann Hematol
Ribersani M, Rubeo A, Colletti R, Regoli D, Nardacci MG, Barberi W, Palumbo G, Testi AM.   +7 more
europepmc   +1 more source

Clinical burden and healthcare resource use of congenital thrombotic thrombocytopenic purpura in England: A linked primary and secondary care data analysis

British Journal of Haematology, EarlyView.
Summary Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra rare haematological disorder. This study aimed to estimate the clinical burden, healthcare resource use (HCRU) and associated costs of cTTP in England using primary and secondary care data. A retrospective cohort study was undertaken using the Clinical Practice Research Datalink (
Erin Barker, Will Lester, Heather Riley, Monica Garrett, Amie Padhiar, Annie Berkley, Sudhakar Manne, Umesh Doobaree, Oliver Heard   +8 more
wiley   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Seronegative Autoimmune Hepatitis Presenting With Concurrent Autoimmune Hemolytic Anemia in a 26-Year-Old Woman: A Rare Overlap Syndrome. [PDF]

ACG Case Rep J
Marfo E, Sims KM.
europepmc   +1 more source