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Spherocytosis

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https://www.readbyqxmd.com/read/27906107/previously-undiagnosed-hereditary-spherocytosis-in-a-patient-with-jaundice-and-pyelonephritis-a-case-report
#1
Yuki Tateno, Ryoji Suzuki, Yukihiro Kitamura
BACKGROUND: Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when hemolysis is well compensated. Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27855617/eryptosis-ally-or-enemy
#2
Marilena Briglia, Maria Antonia Rossi, Caterina Faggio
Prior to senescence, erythrocytes may, experience injury which compromises their integrity and thus triggers suicidal erythrocyte death or eryptosis. This mechanism is characterised by cell shrinkage, cell membrane blebbing, and cell membrane phospholipid scrambling after phosphatidylserine exposure on the cell surface that is identified by macrophages which engulf and degrade the eryptotic cells. The term eryptosis also includes typical mechanisms, which contribute to the triggering of this process. Among them: oxidative stress, Ca2+ entry with an increase in cytosolic Ca2+ activity ([Ca ]i) and the activation of p38 kinase, which is a kinase expressed in human erythrocytes and activated after hyperosmotic shock...
November 18, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27848995/a-novel-enu-induced-ankyrin-1-mutation-impairs-parasite-invasion-and-increases-erythrocyte-clearance-during-malaria-infection-in-mice
#3
Hong Ming Huang, Denis C Bauer, Patrick M Lelliott, Andreas Greth, Brendan J McMorran, Simon J Foote, Gaetan Burgio
Genetic defects in various red blood cell (RBC) cytoskeletal proteins have been long associated with changes in susceptibility towards malaria infection. In particular, while ankyrin (Ank-1) mutations account for approximately 50% of hereditary spherocytosis (HS) cases, an association with malaria is not well-established, and conflicting evidence has been reported. We describe a novel N-ethyl-N-nitrosourea (ENU)-induced ankyrin mutation MRI61689 that gives rise to two different ankyrin transcripts: one with an introduced splice acceptor site resulting a frameshift, the other with a skipped exon...
November 16, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27814430/computational-biomechanics-of-human-red-blood-cells-in-hematological-disorders
#4
Xuejin Li, He Li, Hung-Yu Chang, George Lykotrafitis, George Em Karniadakis
We review recent advances in multiscale modeling of the biomechanical characteristics of red blood cells (RBCs) in hematological diseases, and their relevance to the structure and dynamics of defective RBCs. We highlight examples of successful simulations of blood disorders including malaria and other hereditary disorders, such as sickle-cell anemia, spherocytosis and elliptocytosis.
November 4, 2016: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/27792725/md-dpd-multiscale-framework-for-predicting-morphology-and-stresses-of-red-blood-cells-in-health-and-disease
#5
Hung-Yu Chang, Xuejin Li, He Li, George Em Karniadakis
Healthy red blood cells (RBCs) have remarkable deformability, squeezing through narrow capillaries as small as 3 microns in diameter without any damage. However, in many hematological disorders the spectrin network and lipid bilayer of diseased RBCs may be significantly altered, leading to impaired functionality including loss of deformability. We employ a two-component whole-cell multiscale model to quantify the biomechanical characteristics of the healthy and diseased RBCs, including Plasmodium falciparum-infected RBCs (Pf-RBCs) and defective RBCs in hereditary disorders, such as spherocytosis and elliptocytosis...
October 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27784127/cd44-as-a-potential-screening-marker-for-preliminary-differentiation-between-congenital-dyserythropoietic-anemia-type-ii-and-hereditary-spherocytosis
#6
B K Singleton, M Ahmed, C A Green, H Heimpel, M J Woźniak, L Ranjha, F Seeney, A Bomford, P Mehta, A Guest, R Mushens, M-J King
BACKGROUND: Bone marrow examination has been the confirmatory test for congenital dyserythropoietic anemia type II (CDAII). Occasional spherocytes on peripheral blood smear can confound the diagnosis. Since a screening test is still unavailable, we explored the feasibility of using flow cytometry as a preliminary screening method. METHODS: Thirteen monoclonal antibodies with specificities for eight erythrocyte membrane proteins were used in FACS analysis to probe the cellular features of red cells from CDAII, normal adults, hereditary spherocytosis (HS), and cord red cells...
October 26, 2016: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/27771375/spleen-histology-in-children-with-sickle-cell-disease-and-hereditary-spherocytosis-hints-on-the-disease-pathophysiology
#7
Marco Pizzi, Fabio Fuligni, Luisa Santoro, Elena Sabattini, Martina Ichino, Rita De Vito, Pietro Zucchetta, Raffaella Colombatti, Laura Sainati, Piergiorgio Gamba, Rita Alaggio
Hereditary spherocytosis (HS) and sickle cell disease (SCD) are associated with splenomegaly and spleen dysfunction in pediatric patients. Scant data exist on possible correlations between spleen morphology and function in HS and SCD. This study aimed to assess the histological and morphometric features of HS and SCD spleens, in order to get possible correlations with disease pathophysiology. In a large series of spleens from SCD, HS and control patients the following parameters were considered: (i) macroscopic features; (ii) lymphoid follicle (LF) density; (iii) presence of peri-follicular marginal zones (MZs); (iv) presence of Gamna-Gandy bodies; (v) density of CD8-positive sinusoids; (vi) density of CD34-positive microvessels; (vii) presence/distribution of fibrosis and SMA-positive myoid cells; (viii) density of CD68-positive macrophages...
October 19, 2016: Human Pathology
https://www.readbyqxmd.com/read/27696975/a-genetic-features-and-gene-interaction-study-for-identifying-the-genes-that-cause-hereditary-spherocytosis
#8
Jing Chen, Yang Zhou, Yaqi Gao, Weijie Cao, Hui Sun, Yanfang Liu, Chong Wang
OBJECTIVE: Hereditary spherocytosis (HS) is a hemolytic disorder characterized by the presence of spherical-shaped red blood cells on the peripheral blood smear. Non-dominant HS cases are due to de novo mutations of the type associated with dominant inheritance or recessive genes. This study is aimed to identify HS-related biological mechanisms and predicting HS candidate genes. METHODS: We searched the known HS-related genes from the public databases. By analyzing the gene ontology (GO) and biological pathway of these genes, we extracted the optimal features to encode HS genes...
October 3, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27566068/open-heart-surgery-using-a-centrifugal-pump-a-case-of-hereditary-spherocytosis
#9
Yuichi Matsuzaki, Hideyuki Tomioka, Masaki Saso, Takashi Azuma, Satoshi Saito, Shigeyuki Aomi, Kenji Yamazaki
BACKGROUND: Hereditary spherocytosis is a genetic, frequently familial hemolytic blood disease characterized by varying degrees of hemolytic anemia, splenomegaly, and jaundice. There are few reports on adult open-heart surgery for patients with hereditary spherocytosis. CASE PRESENTATION: We report a rare case of an adult open-heart surgery associated with hereditary spherocytosis. A 63-year-old man was admitted for congestive heart failure due to bicuspid aortic valve, aortic valve regurgitation, and sinus of subaortic aneurysm...
August 26, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27559691/next-generation-osmotic-gradient-ektacytometry-for-the-diagnosis-of-hereditary-spherocytosis-interlaboratory-method-validation-and-experience
#10
Elena Lazarova, Béatrice Gulbis, Brigitte van Oirschot, Richard van Wijk
BACKGROUND: Osmotic gradient ektacytometry is part of the laboratory diagnosis process of hereditary spherocytosis (HS) and other red blood cell (RBC) membrane disorders. We here present the experience of two independent institutions with a next-generation ektacytometer, the LoRRca MaxSis analyzer, in HS diagnostic settings. METHODS: Inter- and intra-assay variability and sample stability were analyzed. Samples from patients with HS (n=40), probable HS (n=21), auto-immune hemolytic anemia (n=7), and other pathologies (n=37) were studied...
August 25, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/27557951/topological-structures-and-membrane-nanostructures-of-erythrocytes-after-splenectomy-in-hereditary-spherocytosis-patients-via-atomic-force-microscopy
#11
Ying Li, Liyuan Lu, Juan Li
Hereditary spherocytosis is an inherited red blood cell membrane disorder resulting from mutations of genes encoding erythrocyte membrane and cytoskeletal proteins. Few equipments can observe the structural characteristics of hereditary spherocytosis directly expect for atomic force microscopy In our study, we proved atomic force microscopy is a powerful and sensitive instrument to describe the characteristics of hereditary spherocytosis. Erythrocytes from hereditary spherocytosis patients were small spheroidal, lacking a well-organized lattice on the cell membrane, with smaller cell surface particles and had reduced valley to peak distance and average cell membrane roughness vs...
September 2016: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/27541710/gallstones-in-childhood-etiology-clinical-features-and-prognosis
#12
Filiz Serdaroglu, Yavuz S Koca, Fatma Saltik, Tugba Koca, Selim Dereci, Mustafa Akcam, Fusun Z Akcam
AIM: The aim of this study was to determine demographic and clinical features in children diagnosed with gallstones, risk factors for gallstone formation, the effectiveness of ursodeoxycholic acid therapy, and the course of the disease. MATERIALS AND METHODS: Patients aged 0-18 years were followed up for at least 6 months after the diagnosis of gallstones with ultrasonography and were evaluated retrospectively. Patients were evaluated with respect to age, sex, presenting symptoms, BMI, facilitating factors, accompanying diseases, family history of gallstones, history of ceftriaxone use, laboratory tests, ultrasonography findings and follow-up, and therapeutic approaches and results...
August 18, 2016: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/27536548/paravertebral-pseudotumor-in-patient-with-hereditary-spherocytosis
#13
Lêda Maria Rabelo, Vítor Lopes Galvão Vieira, Gustavo Rengel Dos Santos, Giselle Heimbecker, Dante Luiz Escuissato
As a rare complication in chronic anemic states, the extramedullary hematopoiesis may provide diagnostic and therapeutic challenge. Caused by the insufficiency of the bone marrow with reactivation of quiescent erythropoietic sites, this condition may vary its presentation as a simple radiologic finding to a spontaneous massive haemothorax. In this paper, we report the case of a 61-years-old female patient with hereditary spherocitosys and paravertebral masses, focusing on clinical and radiological findings in CT and MRI to conclude the tumors etiology and provide adequate care...
2016: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27525076/pulmonary-arterial-hypertension-associated-with-hereditary-spherocytosis-and-splenectomy-in-a-patient-with-a-mutation-in-the-bmpr2-gene
#14
Adolfo Baloira, María Bastos, Guillermo Pousada, Diana Valverde
There is some question about the relationship between hereditary spherocytosis (HS) and pulmonary arterial hypertension, even associated with splenectomy. The finding of BMPR2 mutations in our patient suggests that other factors are necessary for the development of the disease, and perhaps, the incidence of pulmonary hypertension is not increased in patients with HS.
August 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27506108/-the-cytometric-technique-of-binding-of-eosin-5-maleimide-in-diagnostic-of-inherent-spherocytosis
#15
J A Kuzminova, S A Plyasunova, V V Jogov, N S Smetanina
The laboratory diagnostic of inherent spherocytosis is based on detection of spherocytes in peripheral blood, decreasing of index of sphericity, decreasing of osmotic resistance of erythrocytes. The new test of diagnostic of hereditary spherocytosis build on molecular defect was developed on the basis of binding extracellular fragments of protein of band 3 with eosin-5-maleimide (EMA-test). The study was carried out to implement comparative analysis of sensitivity and specificity of techniques applied to diagnose inherent spherocytosis...
March 2016: Klinicheskaia Laboratornaia Diagnostika
https://www.readbyqxmd.com/read/27467372/delayed-measurement-of-eosin-5-maleimide-binding-may-affect-the-test-results-of-highly-hemolyzed-samples-in-vivo-and-in-vitro-a-case-study
#16
Olga Ciepiela, Anna Adamowicz-Salach, Izabela Zdziechowicz, Iwona Kotuła
Diagnosis of hereditary spherocytosis (HS) is based on clinical evaluation and eosin-5'-maleimide (EMA) test. A decrease in EMA fluorescence compared with healthy individuals is typical for HS and serves as a basis for HS diagnosis. Sensitivity and specificity of the test is high and false-positive results rarely occur. Studies have shown that anticoagulated blood sample when stored at 4°C for 7 days do not affect the test results. This case study is about an autoimmune hemolytic anemia patient who showed a primary positive result for EMA test (decrease in EMA fluorescence-47% compared with 100% for samples of healthy individual), when the test was performed in the sample stored for 48 hours after venipuncture and before staining...
November 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27465156/red-blood-cell-aquaporin-1-expression-is-decreased-in-hereditary-spherocytosis
#17
Renée L Crisp, Romina E Maltaneri, Daniela C Vittori, Liliana Solari, Daniel Gammella, Gabriel Schvartzman, Eliana García, María C Rapetti, Hugo Donato, Alcira Nesse
Aquaporin-1 (AQP1) is the membrane water channel responsible for changes in erythrocyte volume in response to the tonicity of the medium. As the aberrant distribution of proteins in hereditary spherocytosis (HS) generates deficiencies of proteins other than those codified by the mutated gene, we postulated that AQP1 expression might be impaired in spherocytes. AQP1 expression was evaluated through flow cytometry in 5 normal controls, 1 autoimmune hemolytic anemia, 10 HS (2 mild, 3 moderate, 2 severe, and 3 splenectomized), and 3 silent carriers...
October 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27445504/positive-predictive-value-of-diagnosis-coding-for-hemolytic-anemias-in-the-danish-national-patient-register
#18
Dennis Lund Hansen, Ulrik Malthe Overgaard, Lars Pedersen, Henrik Frederiksen
PURPOSE: The nationwide public health registers in Denmark provide a unique opportunity for evaluation of disease-associated morbidity if the positive predictive values (PPVs) of the primary diagnosis are known. The aim of this study was to evaluate the predictive values of hemolytic anemias registered in the Danish National Patient Register. PATIENTS AND METHODS: All patients with a first-ever diagnosis of hemolytic anemia from either specialist outpatient clinic contact or inpatient admission at Odense University Hospital from January 1994 through December 2011 were considered for inclusion...
2016: Clinical Epidemiology
https://www.readbyqxmd.com/read/27445073/bilateral-central-serous-retinopathy-in-a-patient-with-paroxysmal-nocturnal-hemoglobinuria-treated-with-deferoxamine
#19
Kaveh Vahdani, Georgios Makrygiannis, Harikesh Kaneshyogan, Inderpaul S Sian, Osama Giasin
PURPOSE: To report a case of acute bilateral central serous retinopathy associated with deferoxamine therapy in the context of paroxysmal nocturnal hemoglobinuria. METHODS: Spectral-domain optical coherence tomography and fundus autofluorescence were used to investigate posterior segment changes. RESULTS: A 76-year-old man with paroxysmal nocturnal hemoglobinuria and hereditary spherocytosis was started on deferoxamine for iron overload secondary to previous blood transfusions...
July 18, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/27423290/hereditary-spherocytosis-with-splenomegaly-and-cholelithiasis-in-a-young-male-of-western-region-of-nepal-a-case-report
#20
P Ghimire, N V Gurung, S Shrestha, S R Poudel, A Chapagain
Hereditary spherocytosis is an autosomal dominant congenital hemolytic anemia due to defect in RBC membrane protein that commonly presents with intermittent jaundice, anemia, abdominal pain, splenomegaly and sometimes cholelithiasis. Due to the membrane defect, there is increased fragility, hemolytic anemia, marked splenomegaly and hyperbilirubinemia. This is a report of an 11 years old male diagnosed case of hereditary spherocytosis who presented with jaundice, splenomegaly and cholelithiasis. He underwent elective open splenectomy and cholecystectomy after prophylactic immunization for capsulated organisms and was advised lifelong oral penicillin prophylaxis post-splenectomy...
October 2015: Kathmandu University Medical Journal (KUMJ)
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