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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)
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...
2016: Journal of Cardiothoracic Surgery
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
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
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
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
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
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
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
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
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
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
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)
Henry E Rice
No abstract text is available yet for this article.
October 2016: Pediatric Blood & Cancer
Igor V Pivkin, Zhangli Peng, George E Karniadakis, Pierre A Buffet, Ming Dao, Subra Suresh
Red blood cells (RBCs) can be cleared from circulation when alterations in their size, shape, and deformability are detected. This function is modulated by the spleen-specific structure of the interendothelial slit (IES). Here, we present a unique physiological framework for development of prognostic markers in RBC diseases by quantifying biophysical limits for RBCs to pass through the IES, using computational simulations based on dissipative particle dynamics. The results show that the spleen selects RBCs for continued circulation based on their geometry, consistent with prior in vivo observations...
July 12, 2016: Proceedings of the National Academy of Sciences of the United States of America
P Joshi, A Aggarwal, M Jamwal, M U S Sachdeva, D Bansal, P Malhotra, P Sharma, R Das
INTRODUCTION: Laboratory diagnosis of hereditary spherocytosis (HS) relies on increased incubated red cell osmotic fragility test for screening. We evaluated the diagnostic role of eosin-5'-maleimide (EMA) binding test by flow cytometry in spherocytic and microcytic hypochromic hematological disorders in North Indians. METHODS: EMA binding test using flow cytometry was performed on 55 HS (40 families), 26 iron deficiency anemia (IDA), 32 β-thalassemia trait (βTT), and 10 autoimmune hemolytic anemia (AIHA) cases and 121 normals...
October 2016: International Journal of Laboratory Hematology
Leonardo Guizzetti
To compare the clinical effectiveness of total splenectomy (TS) or partial splenectomy (PS) in pediatric hereditary spherocytosis, a systematic review and meta-analysis was performed (PROSPERO registration CRD42015030056). There were 14 observational studies comparing pre- and postoperative hematologic parameters. Secondary outcomes include in-hospital infections, surgical complications, symptomatic recurrence, and biliary disease. TS is more effective than PS to increase hemoglobin (3.6 g/dl vs. 2.2 g/dl) and reduce reticulocytes (12...
October 2016: Pediatric Blood & Cancer
Maxwell Westerman, John B Porter
The red blood cell (RBC) is historically the original parent cell of microparticles (MPs). In this overview, we describe the discovery and the early history of red cell-derived microparticles (RMPs) and present an overview of the evolution of RMP. We report the formation, characteristics, effects of RMP and factors which may affect RMP evaluation. The review examines RMP derived from both normal and pathologic RBC. The pathologic RBC studies include sickle cell anemia (SCA), sickle cell trait (STr), thalassemia intermedia (TI), hereditary spherocytosis (HS), hereditary elliptocytosis (HE), hereditary stomatocytosis (HSt) and glucose-6-phosphate dehydrogenase deficiency (G6PD)...
July 2016: Blood Cells, Molecules & Diseases
Timothy J Satchwell, Amanda J Bell, Bethan R Hawley, Stephanie Pellegrin, Kathryn E Mordue, Cees Th B M van Deursen, Nicole Heitink-Ter Braak, Gerwin Huls, Mathie P G Leers, Eline Overwater, Rienk Y J Tamminga, Bert van der Zwaag, Elisa Fermo, Paola Bianchi, Richard van Wijk, Ashley M Toye
Ankyrin-R provides a key link between band 3 and the spectrin cytoskeleton that helps to maintain the highly specialized erythrocyte biconcave shape. Ankyrin deficiency results in fragile spherocytic erythrocytes with reduced band 3 and protein 4.2 expression. We use in vitro differentiation of erythroblasts transduced with shRNAs targeting ANK1 to generate erythroblasts and reticulocytes with a novel ankyrin-R 'near null' human phenotype with less than 5% of normal ankyrin expression. Using this model, we demonstrate that absence of ankyrin negatively impacts the reticulocyte expression of a variety of proteins, including band 3, glycophorin A, spectrin, adducin and, more strikingly, protein 4...
September 2016: Haematologica
Matteo Molica, Fulvio Massaro, Giorgia Annechini, Erminia Baldacci, Gianna Maria D'Elia, Riccardo Rosati, Silvia Maria Trisolini, Paola Volpicelli, Robin Foà, Saveria Capria
Selective splenic artery embolization (SSAE) is a nonsurgical intervention characterized by the transcatheter occlusion of the splenic artery and/or its branch vessels using metallic coils or other embolic devices. It has been applied for the management of splenic trauma, hypersplenism with portal hypertension, hereditary spherocytosis, thalassemia and splenic hemangioma. We hereby describe a case of a patient affected by idiopathic thrombocytopenic purpura (ITP) and warm auto-immune hemolytic anemia (AIHA) both resistant to immunosuppressive and biological therapies, not eligible for a surgical intervention because of her critical conditions...
2016: Mediterranean Journal of Hematology and Infectious Diseases
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