Results 61 to 70 of about 6,512 (195)

Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion

Case Reports in Neurological Medicine, 2016
The etiology of spinal cord infarcts (SCIs), besides being related to aortic perioperative events, in large subset of SCIs, remains cryptogenic.
Waqar Waheed, Anjali L. Varigonda, Chris E. Holmes, Christopher Trevino, Neil M. Borden, W. Pendlebury   +5 more
doaj   +1 more source

Cholelitiasis in an adult patient with mild hereditary spherocytosis – a case report [PDF]

Archives of the Balkan Medical Union, 2018
Hereditary spherocytosis (HS) is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. The condition is dominantly inherited in 75% of people.
Bogdan SOCEA, Anca A. NICA, Alexandru C. SMARANDA, Ovidiu G. BRATU, Camelia C. DIACONU, Vlad D. B Ă LEANU, Drago ș V. DAVI Ț OIU, Mihai DIMITRIU, Alexandru C. CARÂP, Simona BOBIC, Vlad D. CONSTANTIN   +10 more
doaj   +1 more source

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, Volume 208, Issue 6, Page 1980-1992, June 2026.
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

Microesferocitose hereditária: avaliação de 20 casos. [PDF]

, 1987
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Fiamoncini, Altair
core  

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report

BMC Medical Genomics, 2022
Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Jincheng Dai, Jun Zeng, Hongxi Tan, Xiangsheng Cai, Benqing Wu   +4 more
doaj   +1 more source

Hold on to your units: Quality of red cell concentrates is only affected after multiple transient warming events

Transfusion, Volume 66, Issue 6, Page 1180-1191, June 2026.
Abstract Background Cryopreserved red cell concentrates (RCCs) glycerolized using a high glycerol (40%) method can be stored below −65°C for up to 30 years; however, units may be inadvertently warmed above −65°C due to freezer failures, human errors, or routine inventory management.
Jayme Kurach, Mackenzie Brandon‐Coatham, Nishaka William, Carly Olafson, Tracey R. Turner, Anika Tahsin Rahman, Behrouz Ehsani‐Moghaddam, Gwen Clarke, Jason P. Acker   +8 more
wiley   +1 more source

Investigation of Red Blood Cell Properties on Impedance Signatures Generated in a Coulter Counter

International Journal for Numerical Methods in Biomedical Engineering, Volume 42, Issue 5, May 2026.
Numerical simulations predicting red blood cell (RBC) dynamics and their electrical signatures in a Coulter counter have been performed, enhancing our understanding of how RBC deformability influences these measurements—traditionally used for counting and sizing.
Pierre Pottier, Pierre Taraconat, Jean‐Philippe Gineys, Damien Isèbe, Franck Nicoud, Simon Mendez   +5 more
wiley   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, Volume 101, Issue 6, Page 1217-1219, June 2026.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Pyoderma Gangrenosum in a Patient With Hereditary Spherocytosis

, 2016
Pyoderma gangrenosum (PG) is a rare, relapsing cutaneous disease with 4 distinctive clinical manifestations: ulcerative, bullous, pustular, and vegetative lesions.
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core   +1 more source