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Spherocytosis

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https://www.readbyqxmd.com/read/28417547/a-long-term-follow-up-study-of-subtotal-splenectomy-in-children-with-hereditary-spherocytosis
#1
C W K Rosman, P M A Broens, M Trzpis, R Y J Tamminga
BACKGROUND: Hereditary spherocytosis (HS) is a heterogeneous hemolytic anemia treated with splenectomy in patients suffering from severe or moderate disease. Total splenectomy, however, renders patients vulnerable to overwhelming postsplenectomy infection despite preventive measures. Although subtotal splenectomy has been advocated as an alternative to total splenectomy, long-term follow-up data are scarce. We investigated how often hematologic recurrences requiring secondary total splenectomy occurred...
April 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28368266/growth-failure-in-hereditary-spherocytosis-and-the-effect-of-splenectomy
#2
Anirban Das, Deepak Bansal, Amita Trehan, Reena Das
OBJECTIVE: To analyze growth-failureand improvement, if any, following splenectomy in children with hereditary spherocytosis. METHODS: Data collection from case-records (n=82) over 27-years(1985-2011). RESULTS: Prevalence of stunting was 26%; 32% were underweight. Stunted children were older in age (P=0.006) and presented late (P=0.003). Splenectomy (n=26) improved anemia (P<0.001). However, height-for-age did not improve at 1-year, or 4...
March 29, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28367341/hereditary-xerocytosis-due-to-mutations-in-piezo1-gene-associated-with-heterozygous-pyruvate-kinase-deficiency-and-beta-thalassemia-trait-in-two-unrelated-families
#3
Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi
Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28321066/gilbert-syndrome-with-concomitant-hereditary-spherocytosis-presenting-with-moderate-unconjugated-hyperbilirubinemia
#4
Mitsuhiko Aiso, Minami Yagi, Atsushi Tanaka, Kotaro Miura, Ryo Miura, Toshihiko Arizumi, Yoriyuki Takamori, Sayuri Nakahara, Yoshihiro Maruo, Hajime Takikawa
We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28281486/a-rare-case-of-post-splenectomy-gastric-volvulus-managed-by-laparoscopic-anterior-gastropexy
#5
Rahul Amreesh Gupta, Rinki Das, Ganga Ram Verma
We report an extremely rare case of recurrent gastric volvulus after open splenectomy for hereditary spherocytosis. The initial episode was managed by endoscopic derotation. Later, for recurrent symptoms, she was successfully managed by laparoscopic anterior gastropexy.
April 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28223188/next-generation-sequencing-unravels-homozygous-mutation-in-glucose-6-phosphate-isomerase-gpic-1040g-a-p-arg347his-causing-hemolysis-in-an-indian-infant
#6
Manu Jamwal, Anu Aggarwal, Anirban Das, Arindam Maitra, Prashant Sharma, Shekhar Krishnan, Neeraj Arora, Deepak Bansal, Reena Das
INTRODUCTION: Inherited anemias diagnostic workup requires a step-wise algorithm. Causal genes implicated in congenital hemolytic anemia are numerous, making a gene-by-gene approach by Sanger sequencing time consuming, expensive and labour intensive. Targeted resequencing can be of great use in explaining these cases. METHODOLOGY: Six months female presented with neonatal jaundice and negative family history. Clinical and laboratory evidences were suggestive of hemolytic anemia...
February 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28221268/moyamoya-syndrome-associated-with-hereditary-spherocytosis-an-emerging-clinical-entity
#7
Eleanor Gait-Carr, Daniel J A Connolly, David King
Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.
April 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28103644/flow-cytometric-osmotic-fragility-test-increased-assay-sensitivity-for-clinical-application-in-pediatric-hematology
#8
Olga Ciepiela, Anna Adamowicz-Salach, Agata Zgodzińska, Magdalena Łazowska, Iwona Kotuła
BACKGROUND: Osmotic fragility test (OFT) is widely considered as a sensitive indicator of red blood cells' sensitivity to the hypotonic solution. It is often used as a screening test for the diagnosis of hereditary spherocytosis (HS). Nowadays, the osmotic fragility test based on flow cytometric analysis (FCM OF) is widely used in laboratory practice. The purpose of this study was to optimize the assay sensitivity and to validate its clinical application in the diagnostic screening of childhood anemias...
January 19, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28000655/a-rare-case-of-post-splenectomy-gastric-volvulus-managed-by-laparoscopic-anterior-gastropexy
#9
Rahul Amreesh Gupta, Rinki Das, Ganga Ram Verma
We report an extremely rare case of recurrent gastric volvulus after open splenectomy for hereditary spherocytosis. The initial episode was managed by endoscopic derotation. Later, for recurrent symptoms, she was successfully managed by laparoscopic anterior gastropexy.
December 21, 2016: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/27979672/-neonatal-expression-of-beta-thalassemia-trait-associated-with-hereditary-spherocytosis-in-two-monozygotic-twins
#10
H Ben Hamouda, B Mahjoub, H Soua, S Laradi, A Miled, M T Sfar
The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27906107/previously-undiagnosed-hereditary-spherocytosis-in-a-patient-with-jaundice-and-pyelonephritis-a-case-report
#11
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
#12
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
#13
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
#14
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.
February 1, 2017: 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
#15
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
#16
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
#17
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 histologic and morphometric features of HS and SCD spleens, 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 perifollicular marginal zones, (iv) presence of Gamna-Gandy bodies, (v) density of CD8-positive sinusoids, (vi) density of CD34-positive microvessels, (vii) presence/distribution of fibrosis and smooth muscle actin (SMA)-positive myoid cells, and (viii) density of CD68-positive macrophages...
February 2017: Human Pathology
https://www.readbyqxmd.com/read/27696975/a-genetic-features-and-gene-interaction-study-for-identifying-the-genes-that-cause-hereditary-spherocytosis
#18
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...
May 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27566068/open-heart-surgery-using-a-centrifugal-pump-a-case-of-hereditary-spherocytosis
#19
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
#20
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...
March 1, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
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