Gotowe bibliografie tematyczne / Homozygous sickle cell

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  1. Artykuły w czasopismach
  2. Rozprawy doktorskie
  3. Książki
  4. Części książek
  5. Streszczenia konferencji

Gotowa bibliografia na temat „Homozygous sickle cell”

Autor: Grafiati
Data publikacji: 2 czerwca 2025
Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "Homozygous sickle cell"

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Adhikari, Ram Chandra, T. B. Shrestha, R. B. Shrestha, R. C. Subedi, K. P. Parajuli, and S. Dali. "SICKLE CELL DISEASE - CASE REPORTS." Journal of Nepal Medical Association 42, no. 145 (2003): 36–38. http://dx.doi.org/10.31729/jnma.715.

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ABSTRACTSickle cell diseases are inherited hematological diseases, prevalent in certain parts of the world. We reporttwo cases of sickle cell diseases, first being sickle cell b-thalassaemia and second homozygous sickle celldisease (SS). Our first case was 5 year old boy presenting with hemolytic anaemia & hepatosplenomegalyhaving sickle cell b-thalassaemia disease . Second case was 17 years female presenting with hemolyticanaemia & joint pain having homozygous sickle cell disease.Key Words: Homozygous sickle cell disease, sickle cell b - thalassaemia, hemoglobin electrophoresis.
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Pandey, Sanjay, Sweta Pandey, Rahasya Mani Mishra та Renu Saxena. "MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS". Mediterranean Journal of Hematology and Infectious Diseases 4, № 1 (2012): e2012001. http://dx.doi.org/10.4084/mjhid.2012.001.

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Xmn-1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and SCD constitutes a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn I polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. Subjects were 60 sickles homozygous and 75 sickle beta thalassemia patients. 5 ml blood samples collected from patients. Screening of sickle patients done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model) used to analyze t
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Parrish, James M., Paul A. Page, David Cohen, et al. "Prebypass Pheresis and Red Blood Cell Exchange in a Patient with Homozygous SS Sickle Cell Disease Undergoing Cardiopulmonary Bypass: A Case Report." Journal of ExtraCorporeal Technology 26, no. 3 (1994): 143–51. http://dx.doi.org/10.1051/ject/1994263143.

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Sickle cell disease was first described by Herrick in 1910. This disease involves an abnormality of the hemoglobin molecule which, under certain conditions, causes the red cell to take on a sickle shape. This abnormal shape and hemoglobin prevent the red cell from performing the normal respiratory functions and interfere with the normal flow through the circulatory system. Individuals demonstrate either a homozygous (dominant) SS or a heterozygous Ss state. Clinical symptoms for patients with SS disease are most often characterized by recurrent painful crises, sequestration of sickled cells, c
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Verma, Ashish, Basant Maheshwari, and Debapriya Rath. "Hematological profile of sickle cell disease in Chhattisgarh." International Journal of Basic & Clinical Pharmacology 9, no. 4 (2020): 552. http://dx.doi.org/10.18203/2319-2003.ijbcp20201175.

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Background: Sickle cell disease hemoglobinopathy gets inherited in autosomal recessive pattern. In sickle cell disease substitution of amino acid valine for glutamic acid at the sixth position on beta globin chain takes place resulting in sickled hemoglobin which is a hemoglobin tetramer.Methods: A prospective observational study was conducted in the Sickle Cell Institute, Raipur, India, and Department of Pharmacology in collaboration with Department of Biochemistry, Pt. J.N.M. Medical College, Raipur, Chhattisgarh, India, from February 2018 to June 2018. Patients included were in the steady s
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Green, GA, MM Rehn, and VK Kalra. "Cell-bound autologous immunoglobulin in erythrocyte subpopulations from patients with sickle cell disease." Blood 65, no. 5 (1985): 1127–33. http://dx.doi.org/10.1182/blood.v65.5.1127.1127.

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Abstract Previously, we have demonstrated a parallel between most-dense (bouyant density) sickle erythrocyte subpopulations and most-dense aged normal red cells in the organization of membrane components in the intact cell. The present study has addressed the possibility that a corresponding similarity may exist between most-dense sickled red cell subpopulations and aged normal erythrocytes in the development of membrane protein components that function as receptors for autologous immunoglobulin (Ig). Autologous IgG retained by density-fractionated erythrocytes has been estimated by a nonequil
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Green, GA, MM Rehn, and VK Kalra. "Cell-bound autologous immunoglobulin in erythrocyte subpopulations from patients with sickle cell disease." Blood 65, no. 5 (1985): 1127–33. http://dx.doi.org/10.1182/blood.v65.5.1127.bloodjournal6551127.

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Previously, we have demonstrated a parallel between most-dense (bouyant density) sickle erythrocyte subpopulations and most-dense aged normal red cells in the organization of membrane components in the intact cell. The present study has addressed the possibility that a corresponding similarity may exist between most-dense sickled red cell subpopulations and aged normal erythrocytes in the development of membrane protein components that function as receptors for autologous immunoglobulin (Ig). Autologous IgG retained by density-fractionated erythrocytes has been estimated by a nonequilibrium 12
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Abdurrahman, Nurat O., Ninuola I. Akinwande, Samuel A. Somma, and Jamiu Omotola Ibrahim. "STABILITY ANALYSIS OF THE MODELS FOR MALARIA'S EFFECTS ON HUMANS BASED ON THE GENETIC STRUCTURE." FUDMA JOURNAL OF SCIENCES 9 (April 29, 2025): 183–88. https://doi.org/10.33003/fjs-2025-09(ahbsi)-3468.

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Malaria, according to encyclopedia Britannica, is a relapsing infection caused by plasmodium, transmitted to humans through the bite of an anopheles mosquito. The composition of the genes in humans can either be homozygous (AA, SS) or heterozygous (AS), the homozygous are usually prone to the infection of malaria. The homozygous sickle cell genes (SS) encounter serious problems with blood shortage due to the sickle cell, this makes the malaria infection in them more complicated. The heterozygous sickle cell, however, develops a resistance to the infection through the immunity offered by the si
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Mohan, J. S., J. M. Marshall, H. L. Reid, P. W. Thomas, and G. R. Serjeant. "Postural Vasoconstriction and Leg Ulceration in Homozygous Sickle Cell Disease." Clinical Science 92, no. 2 (1997): 153–58. http://dx.doi.org/10.1042/cs0920153.

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1. Chronic leg ulceration is a major cause of morbidity in patients with homozygous sickle cell disease; the ulcers commonly resolve on bed rest. We have therefore compared the cutaneous vascular response to dependency in three groups of eight patients with sickle cell disease (those with an active ulcer, with an ulcer scar and with no history of ulceration) and in eight subjects with normal haemoglobin and no history of leg ulceration. 2. We monitored, with a laser Doppler flowmeter, the change in red cell (erythrocyte) flux induced in the skin of the leg, at two sites proximal to the malleol
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Vayá, Amparo, Susana Collado, Rafael Alis, and Maria-Angeles Dasí. "Erythrocyte aggregation in homozygous sickle cell disease." Clinical Hemorheology and Microcirculation 58, no. 3 (2014): 475–77. http://dx.doi.org/10.3233/ch-141869.

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Magnus, S. A., I. R. Hambleton, F. Moosdeen, and G. R. Serjeant. "Recurrent infections in homozygous sickle cell disease." Archives of Disease in Childhood 80, no. 6 (1999): 537–41. http://dx.doi.org/10.1136/adc.80.6.537.

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Rozprawy doktorskie na temat "Homozygous sickle cell"

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Singhal, Atul. "Growth and metabolism in homozygous sickle cell disease." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.288009.

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Daak, Ahmed Abd Almalik. "Clinical and biochemical effects of omega-3 fatty acid supplementation on patients with homozygous sickle cell disease." Thesis, London Metropolitan University, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.549556.

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Wright, Adrian C. "Three transgenic hemoglobin SAD (S-Antilles, -Punjab), partial-"knockout" murine models of human sickle cell disease : the generation and phenotypic analysis of SAD mice with (1) heterozygous-null deletion of the murine a-globin genes, (2) homozygous-null deletion of the murine a-globin genes, and (3) heterozygous null deletions of the murine a- and b-globin genes." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=31559.

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To further our understanding of the complex pathophysiology of human sickle cell disease (SCD) and to develop better therapies, three transgenic mouse lines have been produced that survive on mostly human hemoglobin (Hb). These lines have been generated by crossing HbSAD (SAD) transgenic mice with other mice carrying a null deletion of the endogenous globin genes (alpha or beta), SAD/homozygous alpha-globin null (SADalpha -/-) mice display a SCD-like phenotype and have a dramatically reduced mean lifespan; therefore, this line provides a novel model for assessment of anti-sickling protocols or
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Merlet, Angèle. "EFFETS D’UN ENTRAINEMENT EN ENDURANCE SUR LES CARACTERISTIQUES MUSCULAIRES DES PATIENTS DREPANOCYTAIRES HOMOZYGOTES." Thesis, Lyon, 2018. http://www.theses.fr/2018LYSES036.

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La drépanocytose est une hémoglobinopathie génétique ayant pour conséquences une anémie hémolytique chronique et sévère et des crises vaso-occlusives itératives. Cette pathologie s’accompagne également d’une intolérance à l’effort et d’altérations de la fonction et du tissu musculaire. Récemment, nous avons pu montrer, par une étude contrôlée et randomisée, l’innocuité et les bénéfices fonctionnels d’un programme d’entrainement en endurance, d’intensité modérée, chez des patients drépanocytaires. L’objectif de ce travail doctoral a été d’évaluer les effets de ce programme d’entrainement sur le
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Mockesch, Berenike. "Caractérisation de la fonction micro et macrovasculaire chez les enfants drépanocytaires SS et SC : les effets de l'activité physique, du stress oxydant et les conséquences sur la sévérité clinique." Thesis, Antilles, 2017. http://www.theses.fr/2017ANTI0194/document.

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La drépanocytose est une maladie génétique caractérisée par la présence d’une hémoglobineanormale. Les travaux de cette thèse visaient à caractériser les fonctions micro-et macrovasculaires chezles enfants atteints de la drépanocytose SS et SC et ses conséquence sur la sévérité clinique. Nosrésultats, réalisées sur une cohorte pédiatrique antillaise, démontrent que les fonctions micro-etmacrovasculaires étaient altérées chez les enfants drépanocytaires homozygotes (SS) et chez les enfantsSC par rapport aux enfants non malades. Ainsi il semble que les patients drépanocytaires présentent, etce d
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Hierso, Régine. "Implication du stress oxydant dans la physiopathologie de la drépanocytose : crises vaso-occlusives, taux d'anticorps anti-bande 3 et oxydation du globule rouge." Thesis, Antilles, 2015. http://www.theses.fr/2015ANTI0045/document.

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A partir du défaut premier de la drépanocytose, la polymérisation de l’hémoglobine S (HbS), se développe toute une série de processus anormaux qui contribuent au développement d’une réponse inflammatoire et d’un stress oxydant dus à une hypoxie-reperfusion traumatisante et à l’auto-oxydation de l’HbS. L’exacerbation du stress oxydatif semble participer de manière active aux mécanismes physiopathologiques de la maladie et jouer un rôle dans la survenue des crises vaso-occlusives (CVO). Les travaux menés dans le cadre de cette thèse avaient pour objectif de mieux documenter les effets délétères
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Książki na temat "Homozygous sickle cell"

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Hilton, Claire Fiona. Psychiatric disorder in a group of young adults with homozygous sickle cell disease compared to an age and sex matched control group with normal haemoglobin in the Jamaican Cohort study. University of Manchester, 1995.

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Lance, Eboni I., and Andrew W. Zimmerman. Sickle Cell Anemia. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0079.

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Sickle cell disease is a genetic hematological disorder involving red blood cells that become deformed when stressed. Patients with homozygous hemoglobin SS disease often have multiple systemic and neurologic complications, particularly stroke. Intellectual disability is commonly seen in the population, in patients with and without a history of stroke, attributed to different underlying mechanisms of brain injury. Autism is rare and not described in sickle cell disease in the literature to date. Many treatments (chronic transfusion therapy, hydroxyurea, bone marrow transplant) are in trials at
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Giangrande, Paul L. F. Haemoglobinopathies. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199550647.003.0005.

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♦ Haemoglobinopathies are commonly inherited disorders of haemoglobin synthesis♦ Thalassaemia is commonest around the Mediterranean countries and has skeletal manifestations due to massive marrow expansion with thinning of the cortex♦ Sickle cell crises occur in homozygotes and are a result of venous occlusion causing avascular necrosis. Infection and exposure to cold can sometimes precipitate these painful events♦ If surgery is needed blood cross-match must be carefully performed in advance, the theatre should be kept warm, and the hydration and acid/base balance of the patient monitored care
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Części książek na temat "Homozygous sickle cell"

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"Sickle cell disease." In Emergencies in Respiratory Medicine, edited by Robert Parker, Catherine Thomas, and Lesley Bennett. Oxford University Press, 2007. http://dx.doi.org/10.1093/med/9780199202447.003.0040.

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Sickle cell disease 250 This is one of the most common inherited conditions in the world and affects predominantly people from equatorial Africa but also those of Mediterranean, Indian, and Middle-Eastern descent. It is recessively inherited and in the homozygous form (HbSS) causes a multi-organ disorder....
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Connes Philippe, Machado Roberto, Hue Olivier, and Reid Harvey. "Sickle Cell Anemia." In Biomedical and Health Research. IOS Press, 2010. https://doi.org/10.3233/978-1-60750-497-9-607.

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Sickle cell anemia (SCA or SS homozygous sickle cell disease) is an inherited blood disorder caused by single nucleotide substitution in the β-globin gene that renders their hemoglobin (HbS) much less soluble than normal hemoglobin (HbA) when deoxygenated. The polymerization of HbS upon deoxygenation is the basic pathophysiologic event leading to RBC sickling, hemolysis, vasoocclusion and ultimately to chronic organ damage.
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Chapman, Stephen J., Grace V. Robinson, Rahul Shrimanker, Chris D. Turnbull, and John M. Wrightson. "Sickle cell disease and the lung." In Oxford Handbook of Respiratory Medicine, edited by Stephen J. Chapman, Grace V. Robinson, Rahul Shrimanker, Chris D. Turnbull, and John M. Wrightson. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198837114.003.0047.

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Sickle cell disease is an autosomal recessive condition resulting in a substitution of a valine for glycine in the β‎-globin subunit of Hb, forming HbS. HbS is less soluble under reduced O<sub>2</sub> tensions and leads to deformation of red blood cells (sickling) when deoxygenated (e.g. in atelectatic lung), resulting in chronic haemolysis and vascular occlusion with tissue infarction in individuals homozygous for the β‎-globin gene mutation (sickle cell anaemia/disease).
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Rosenow, Edward C. "Extramedullar Hematopoiesis (EMH)." In Mayo Clinic Challenging Images for Pulmonary Board Review. Oxford University Press, 2010. http://dx.doi.org/10.1093/med/9780199756926.003.0111.

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• Production of blood cells outside the bone marrow • Occurs with the following: ∘ Myeloproliferative process (eg, agnogenic myeloid dysplasia) ∘ Homozygous sickle cell disease ∘ Thalassemia ∘ Chronic hemolytic processes • Splenomegaly 〉95% of patients • Hepatomegaly 65% of patients • Diagnosis ∘...
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Serjeant, G. R. "Sickle-cell disease and the kidney." In Oxford Textbook of Medicine. Oxford University Press, 2010. http://dx.doi.org/10.1093/med/9780199204854.003.211006.

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The vasa rectae system of the renal medulla is uniquely conducive to sickling, which leads to vascular damage and tubular dysfunction, including an inability to concentrate the urine. Renal presentations include nocturnal enuresis, haematuria (thought to be due to ischaemic lesions of the papillae, including papillary necrosis), and gradually progressive chronic renal failure, which is an important cause of morbidity and death in patients with homozygous sickle-cell disease over the age of 40 years....
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Ghosh, Samit. "Kidney Injuries in Sickle Cell Disease." In Sickle Cell Disease [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.102839.

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Sickle cell disease (SCD), characterized by the presence of unstable sickle hemoglobin in the homozygous state (HbSS), results in progressive organ damage and early mortality with the median age of death in the 40s. The kidney is one of the most severely affected organs in SCD. Kidney diseases gradually develop in individuals with SCD. Microalbuminuria is evident in childhood, progressing to apparent proteinuria, deteriorating glomerular filtration rate (GFR) in early adulthood. While CKD becomes prevalent in adults. Moreover, among SCD patients, exacerbation of anemia is an independent risk f
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Armstrong, F. Daniel, and Steven Pavlakis. "Neurocognitive Outcomes in Sickle Cell Disease." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0033.

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Sickle cell disease (SCD) is associated with a range of serious complications, including painful episodes, acute chest syndrome, stroke, splenic sequestration, overwhelming bacterial sepsis, and a host of other less frequent complications that impair quality of life and threaten long-term survival (National Institutes of Health [NIH] 2002). More than 98% of all children born in the United States are tested for SCD as part of state newborn screening programs, making it possible to identify infants who are at risk for these many complications of SCD (Centers for Disease Control and Prevention 20
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Adesanya, S. A., and A. Sofowora. "Phytochemical investigation of candidate plants for the management of sickle cell anaemia." In Phytochemistry of Plants Used in Traditional Medicine. Oxford University PressOxford, 1995. http://dx.doi.org/10.1093/oso/9780198577751.003.0008.

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Abstract Sickle cell anaemia (SCA) is a hereditary disease first described by Herrick in 1910. The genes of the patient code for the synthesis in cells of an abnormal haemoglobin HbS, which has /?6-valine instead of /?6-glutamic acid found in normal haemoglobin (HbA) (Murayama 1967). The resultant clinical manifestation of the disease is prominent in patients homozygous for the S gene (HbSS), while heterozygotes with other abnormal genes, such as SC, SThal, or SF, exhibit a milder form of the disease. People with HbAS, however, do not show the symptoms associated with SCA (Lawrence and Wallace
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Hay, Deborah, and David J. Weatherall. "Disorders of the synthesis or function of haemoglobin." In Oxford Textbook of Medicine, edited by Chris Hatton and Deborah Hay. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0537_update_001.

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Inherited disorders of haemoglobin are the most common single-gene diseases affecting humans. Caused by disordered production of one or more globin chains or changes in globin structure, thalassaemia and sickle cell disease are responsible for an immense burden of illness across the globe. Thalassaemia describes a heterogeneous group of Mendelian conditions due to reduced synthesis of one or more of the globin chains. According to their clinical manifestations, the thalassaemias are classified into major (a severe transfusion-dependent disease), intermediate (characterized by anaemia and splen
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Hay, Deborah, and David J. Weatherall. "Disorders of the synthesis or function of haemoglobin." In Oxford Textbook of Medicine, edited by Chris Hatton and Deborah Hay. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0537.

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The inherited disorders of haemoglobin are the commonest single-gene disorders in the world. Disorders of haemoglobin can be genetic or acquired and due to disordered production of one or more globin chains or structural change in the globin chain. The most important disorders are the genetic conditions thalassaemia and sickle cell disease. Thalassaemia—a heterogeneous group of genetic disorders, all resulting from a reduced rate of production of one or more of the globin chains of haemoglobin and inherited in a simple Mendelian fashion. They are clinically classified according to their severi
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Streszczenia konferencji na temat "Homozygous sickle cell"

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Ferrant, A., N. Leners, E. K. Gini, J. P. Osselaerey, and J. Sonnet. "EFFECT OF PIRACETAM ON THE MEAN INTRASPLENIC RED CELL TRANSIT TIME (MST) IN SICKLE CELL DISEASE AND SICKLE CELL THALASSAEMIA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644215.

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The effect of Piracetam on the MST has been evaluated in 3 children with homozygous sickle cell disease, and in 1 child and 2 adults with sickle cell β thalassaemia. The MST was measured using 99 Tern labelled autologous red cells before and during treatment with Piracetam (160 mg/kg/d). Tests for in vitro fi1terabi1ity of red cells were performed and an improvement of the in vitro deformabi1ity was observed in all the patients.A shortening of the MST was also observed :
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Chamone, D. A. F., A. Y. Hoshikawa-Fujimura, C. Massumoto, G. Bellotti, F. Arashiro, and M. Jamra. "ABNORMALITIES OF PLATELET AGGREGATION AND ENHANCED FACTOR X ACTIVATOR ACTIVITY OF WASHED PLATELETS IN SICKLE CELL DISEASE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644544.

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The occurence of microvascular occlusion is one of the most prominent pathologic features of sickle cell anemia. The mechanism of vaso occlusion has generally been attributed to the abnormal shape and reduced deformability of the sickled erithrocy tes. However, the involvement of vascular endothelium, platelets and their interactions with coagulation factors may also be of pathogenic significance in microvascular occlusive crises.We investigated the interaction between vascular endothelium, platelets and blood coagulation factors in 23 patients with Sickle Cell Disease (SCD) and in normal volu
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Sonnet, J., and E. K. Gini. "IMPROVEMENT OF SICKLE CELL DEFORMABILITY BY PIRACETAM IN VITRO AND IN VIVO." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644214.

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Piracetam (P) (2-oxo-pyrrolidine acetamide) has Theological properties and has been used at various dosages over the past decade for the management of psychosenescent syndromes. On maintenance therapy, at the oral dosage of 160 mg/kg/day, in four divided doses, P reduces the number of vaso-occlusive crises in sickle cell homozygous patients, to about a fifth of what could be expected without drug. After oral intake at the latter dosage P's bioavailability in the blood ranges from 0.5to 1 m mol/1. Microsieving on polycarbonate filters, 5 μ m por size, of diluted suspensions (haematocrit 1%) of
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Dautzenberg, M. D., F. Monge, A. M. Fischer, R. Girot, and P. Cornu. "COAGULATION AND FIBRINOLYSIS IN SICKLE CELL DISEASE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643056.

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Sickled erythocytes appear to be primarily responsible for occlusion of microvasculature in patients with homozygous sickle cell disease (SCD), but it is unknown whether the activation of the coagulation pathway is also contributory to these vaso-occlusive crisis and other complications as leg ulcers, aseptic necrosis of bone, strokes. Thus, we studied coagulation and fibrinolysis parameters in 12 patients (ages 2 to 26 years with SCD, in steady-state, far from thrombotic events which occurred in 3 of them) to determine if it would be possible to detect a high-risk group for thrombosis. We wer
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Adesanya, Omotayo, Claire Stockley, Obi Anuruegbe, and Bindu Koodiyedath. "1394 Hydroxycarbamide therapy amongst children with homozygous sickle cell disease in large district general hospital – a quality improvement project." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.612.

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Machado, Vitor Pereira, Edis Bellini Júnior, Lucas Gazarini, Clarisse Lobo, and Claudia Bonini-Domingos. "Association of genetic markers with ischemic stroke in pediatric patients with sickle cell anemia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.293.

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Introduction: Sickle cell anemia (SCA) is characterized by complex clinical heterogeneity. Amongst them, ischemic stroke (IS) stands out because it affects 8% to 12% of patients up to the age of 20, with a mortality rate of 20% in untreated cases. Objectives: To evaluate the association of SNPs -786T/C NOS3 and C667T MTHFR in the occurrence of IS in SCA pediatric patients undergoing regular blood transfusion. Methods: Ninety SCA pediatric patients 12.1±3.3 years old being followed-up at HEMORIO/RJ, divided into Patients with IS in hypertransfusion (n=20) and Patients without IS not transfused
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