Thesis (M. Phil.)--University of Hong Kong, 1987.

No description available.

Orientador: Celso Dario Ramos, Carmen Silvia Passos Lima / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-12T10:45:39Z (GMT). No. of bitstreams: 1 Barros_FabianaBianchinide_M.pdf: 2751233 bytes, checksum: 6f21461552f5ea5427e117087a77755a (MD5) Previous issue date: 2007 / Resumo: O c/earance de creatinina tem sido relatado como sendo impreciso para a estimativa da taxa de filtração glomerular (TFG) nos pacientes com anemia falciforme (AF). O c/earance de inulina, método de referência para a medida da TFG, é pouco prático para o uso rotineiro nesses pacientes. As medidas da TFG por depuração plasmática de EDTA51Cr raramente têm sido relatadas em portadores de AF. Visando obter valores da referência para a TFG com EDTA-51Cr nesta doença, foram estudados 70 pacientes, sendo 40 mulheres e 30 homens, com idades de 13 a 59 anos (média: 31,6 anos), portadores de AF na forma homozigótica, com creatinina sérica normal e albuminúria = 200 Jlg/min. Todos os pacientes foram submetidos a injeção única de EDTA-51Cr para análise da TFG, dosagem de albumina urinária e medida do hematócrito. A depuração plasmática do EDTA-51Cr foi calculada em diferentes grupos de idade (< 20, 20-29,30-39,40-49 e > 50 anos). A TFG média (± desvio padrão) obtida para os 70 pacientes foi 111,5 ± 23,1 ml/min/l,73 m2. A análise de variância (ANOVA) para verificar o possível efeito da interação entre a TFG por EDTA-51Cr e o sexo, idade, albumina urinária e hematócrito demonstraram a idade do paciente como sendo o único fator de influência na TFG por EDTA-51Cr (p< 0,001). O coeficiente de correlação de Spearman mostrou uma correlação significativa entre a TFG por EDTA-51Cr e a idade do paciente (r= - 0,44; p= 0,0001), mas não entre as medidas com EDTA-51Cr e a albumina urinaria (r = - 0,17, p= 0,1546) ou o hematócrito (r = 0,079, p= 0,5121). O grupo de pacientes na faixa de 20-29 anos apresentou o mais elevado valor médio de TFG por EDTA-51Cr (126,7 ± 20,4 ml/min/l,73 m2), havendo uma redução progressiva desse valor nos grupos mais velhos. Adultos jovens com AF na forma homozigótica, com creatinina sérica normal apresentam valores supranormais de TFG medida por EDTA-51Cr. Esses valores diminuem rapidamente para níveis semelhantes aos normais em faixas etárias mais elevadas. Não foi evidenciada correlação entre albuminúria e TFG nesses pacientes. / Abstract: Creatinine clearance has been reported to be inaccurate for the glomerular filtration rate (GFR) estimation in patients with sickle celI anemia (SCA). Inulin clearance, the reference method for GFR estimation, is impractical for routine use in these patients. 51Cr EDTA measurements of the GFR have been rarely reported in SCA. In order to obtain reference 51Cr-EDTA values in this disease, we studied 70 patients (40 females, 30 males; 13-59 years old, mean: 31.6 years) with homozygous SCA and normal serum creatinine. AlI patients were submitted to single-injection 51Cr-EDTA to analyze the GFR, urinary albumin and hematocrit measurements. 51Cr-EDTA clearances were calculated in different age groups (<20, 20-29, 30-39,40-49 and >50 years). The mean GFR (± standard deviation) obtained for the 70 patients was 111.5 ± 23.1 ml/min. Analysis ofvariance for evaluation ofthe possible interaction effect between 51CrEDT A clearance and sex, age, urinary albumin and hematocrit demonstrated patient age as the only factor influencing 51Cr-EDTA clearance (p<0.001). The Spearman correlation .coefficient showed a significant relationship between 51Cr-EDT A clearance and patient age (r=-0.44, p=0.0001), but not between 51Cr-EDTA and urinary albumin (r =-0.17, p=0.1546) orhematocrit (r =0.079, p=0.5121). The group aged 20-29 years presented the hi~hest 51CrEDTA clearance mean value (126.7 ± 20.4 ml/min), with a progressive reduction in the older groups. Young adults with homozygous SCA and normal serum creatinine present supranormal 51Cr- EDTA GFR values. These values rapidly decrease to normallevels with aging. We did not find association between albuminuria and GFR in these patients. / Mestrado / Ciencias Basicas / Mestre em Clinica Medica

Hemoglobinopathies, the disorders of hemoglobin structure and synthesis, can be divided into two forms of clinical manifestation, namely thalassemias and abnormal hemoglobins. Thalassemia appears to involve an abnormal gene which results in a reduced rate of globin synthesis and it presents clinically as a hypochromic microcytic anemia. Its cause lies in some abnormality of the regulation of globin synthesis. An abnormal hemoglobin is usually the result of a mutation of one base in a codon triplet of the structural gene for one or other hemoglobin chain which leads to an amino acid substitution in the primary structure of the globin. In this study, the biochemical characterization of five samples of abnormal hemoglobin which were obtained from patients at Vancouver General Hospital, Vancouver, B.C. and Siriraj Hospital, Bangkok is described. In the first case from V.G.H., the propositus, a 17 month old Chinese girl showed a fast (anionic) abnormal hemoglobin from birth. In a biochemical investigation of the variant from her father it was found that the glycine residue 56 in the β-chain was substituted by aspartic acid. This mutant is identical to that previously designated as HbJ Bangkok ([formula omitted]). The second case, a 21 year old Thai male in Bangkok was shown to be a double heterozygote with both a slow and a fast abnormal hemoglobin and an absence of HbA upon starch gel electrophoresis. Structural characterization of the separated globin chain of both variants indicated that the mutation in the slow variant occurred at residue 26 of β-chain where glutamic acid was replaced by lysine. This mutation is similar to that previously described as HbE ([formula omitted]). The fast variant showed an amino acid alteration at position 113 of β-chain where valine was substituted by glutamic acid. This mutation is identical with Hb New York ([formula omitted]). A double heterozygote involving both HbE and Hb New York has not been previously described. The other three samples from unrelated patients in Bangkok revealed a slow mutant on starch gel electrophoresis and biochemical studies showed that residue 74 in the α-chain was changed from an aspartyl to a histidyl residue. This mutation has not been previously described. It is proposed that this new hemoglobin ([formula omitted]) be called Hb Mahidol after Mahidol University in Bangkok. In one of the three patients showing Hb Mahidol interaction with α-thalassemia (α-thalassemia-Hb Mahidol) occurs. This results in the clinical features of chronic hemolytic anemia and a total absence of HbA which is replaced by Hb Mahidol together with some HbH([formula omitted]). / Medicine, Faculty of / Pathology and Laboratory Medicine, Department of / Graduate

Thesis (Ph.D.)--Drexel University, 2008. / Includes abstract and vita. Includes bibliographical references (leaves 152-157).

Orientador: Claudia Regina Bonini-Domingos / Banca: Nicola Amanda Conran Zorzetto / Banca: Maria Stella Figueiredo / Resumo: A anemia falciforme (AF) apresenta processos fisiopatológicos complexos que dificultam o tratamento e culminam no desenvolvimento de manifestações clínicas diversificadas, as quais são moduladas por marcadores genéticos, como os haplótipos da globina beta S (β S ), e bioquímicos como glicoproteínas plasmáticas detoxificadoras: haptoglobina (Hp) e a hemopexina (Hpx) que formam complexos com a Hb e grupo heme livres, respectivamente, garantindo efeitos antioxidantes e anti-inflamatórios, e a eritropoetina (Epo) que repõe os eritrócitos em resposta à hemólise, por exemplo. Desta forma, o objetivo do trabalho foi verificar, em portadores da AF, a influência do haplótipo Bantu sobre o tratamento com hidroxiuréia (HU) por meio da análise de marcadores de estresse oxidativo e eritrogênico, correlacionando-os com parâmetros hematimétricos e níveis de hemoglobina fetal (Hb F). Para isso, o grupo amostral (67 portadores da AF), foi dividido em três subgrupos: 25 (37,3%) homozigotos para o haplótipo Bantu (Bantu/Bantu), 26 (38,8%) heterozigotos para o haplótipo Bantu (Bantu/_) e 16 (23,0%) sem o haplótipo Bantu (_/_). Todos sob uso de HU há pelo menos 300 dias, sem transfusão sanguínea há 120 dias e adultos independentes do gênero. A confirmação da homozigose para Hb S e dos haplótipos β S , foi realizada por PCR-RFLP; os níveis de peroxidação lipídica (TBARS) foram avaliados por método espectrofotométrico e as glicoproteínas plasmáticas (Epo, Hp e Hpx) por ensaio imunoenzimático. Os parâmetros hematológicos foram fornecidos pelo HEMORIO. A média de Hb F no grupo amostral foi de 12,1% e não diferiu entre os subgrupos (p=0,55), porém o Bantu/_ apresentou acréscimo na média sendo o Benin o segundo haplótipo mais frequente. Os valores médios de... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Sickle cell anemia (SCA) presents complex pathophysiological processes that complicate the treatment and culminate in development of diverse clinical manifestations, which are modulated by genetic markers, such as beta-S globin haplotype (β S ), and biochemical, such as plasmatic glycoproteins with action to detoxify: haptoglobin (Hp) and hemopexin (Hpx), which form complexes with free Hb and heme, respectively, providing antioxidant and anti-inflammatory effects, and erythropoietin (Epo), that restores the erythrocytes in response to hemolysis, for example. Thus, the aim of this study was to determine, in patients with SCA, the influence of Bantu haplotype in treatment with hydroxyurea (HU), by analysis of oxidative stress and erythrogenic markers, correlating them with hematological parameters and levels of fetal hemoglobin (Hb F). For this, the sample group (67 SCA patients), was divided into three subgroups: 25 (37.3%) were homozygous for the Bantu haplotypes (Bantu/Bantu), 26 (38.8%) heterozygous for the Bantu haplotype (Bantu/_) and 16 (23.0%) without the Bantu haplotype (_/_). The sample group was under use of HU for at least 300 days, without blood transfusion for 120 days and were all adults independent of the genus. The confirmation of homozygous Hb S and β S haplotypes was performed by PCR-RFLP; levels of lipid peroxidation (TBARS) were measured by the spectrophotometric method and plasmatic glycoproteins (Epo, Hp and Hpx) by enzyme immunoassay. Hematological parameters were provided by HEMORIO. The average of Hb F in the sample group was 12.1% and did not differ between the groups (p = 0.55), but the Bantu/_ showed an increase in the average, being Benin the second most frequent haplotype. The average values of Epo, Hp and Hpx did not differ between the subgroups, indicating... (Complete abstract click electronic access below) / Mestre

Thesis (M.S.)--Florida State University, 2004. / Advisor: Dr. Dean Falk, Florida State University, College of Arts and Sciences, Dept. of Anthropology. Title and description from dissertation home page (viewed June 21, 2004). Includes bibliographical references.

published_or_final_version / Biochemistry / Master / Master of Philosophy

Thesis (Ph. D.)--Victoria University (Melbourne, Vic.), 2006. / Includes bibliographical references.

Made available in DSpace on 2014-06-11T19:26:05Z (GMT). No. of bitstreams: 0 Previous issue date: 2013-02-28Bitstream added on 2014-06-13T20:14:36Z : No. of bitstreams: 1 okumura_jv_me_sjrp.pdf: 696529 bytes, checksum: 2a0827bc29bf32b706302f69645cb405 (MD5) / A anemia falciforme (AF) apresenta processos fisiopatológicos complexos que dificultam o tratamento e culminam no desenvolvimento de manifestações clínicas diversificadas, as quais são moduladas por marcadores genéticos, como os haplótipos da globina beta S (β S ), e bioquímicos como glicoproteínas plasmáticas detoxificadoras: haptoglobina (Hp) e a hemopexina (Hpx) que formam complexos com a Hb e grupo heme livres, respectivamente, garantindo efeitos antioxidantes e anti-inflamatórios, e a eritropoetina (Epo) que repõe os eritrócitos em resposta à hemólise, por exemplo. Desta forma, o objetivo do trabalho foi verificar, em portadores da AF, a influência do haplótipo Bantu sobre o tratamento com hidroxiuréia (HU) por meio da análise de marcadores de estresse oxidativo e eritrogênico, correlacionando-os com parâmetros hematimétricos e níveis de hemoglobina fetal (Hb F). Para isso, o grupo amostral (67 portadores da AF), foi dividido em três subgrupos: 25 (37,3%) homozigotos para o haplótipo Bantu (Bantu/Bantu), 26 (38,8%) heterozigotos para o haplótipo Bantu (Bantu/_) e 16 (23,0%) sem o haplótipo Bantu (_/_). Todos sob uso de HU há pelo menos 300 dias, sem transfusão sanguínea há 120 dias e adultos independentes do gênero. A confirmação da homozigose para Hb S e dos haplótipos β S , foi realizada por PCR-RFLP; os níveis de peroxidação lipídica (TBARS) foram avaliados por método espectrofotométrico e as glicoproteínas plasmáticas (Epo, Hp e Hpx) por ensaio imunoenzimático. Os parâmetros hematológicos foram fornecidos pelo HEMORIO. A média de Hb F no grupo amostral foi de 12,1% e não diferiu entre os subgrupos (p=0,55), porém o Bantu/_ apresentou acréscimo na média sendo o Benin o segundo haplótipo mais frequente. Os valores médios de... / Sickle cell anemia (SCA) presents complex pathophysiological processes that complicate the treatment and culminate in development of diverse clinical manifestations, which are modulated by genetic markers, such as beta-S globin haplotype (β S ), and biochemical, such as plasmatic glycoproteins with action to detoxify: haptoglobin (Hp) and hemopexin (Hpx), which form complexes with free Hb and heme, respectively, providing antioxidant and anti-inflammatory effects, and erythropoietin (Epo), that restores the erythrocytes in response to hemolysis, for example. Thus, the aim of this study was to determine, in patients with SCA, the influence of Bantu haplotype in treatment with hydroxyurea (HU), by analysis of oxidative stress and erythrogenic markers, correlating them with hematological parameters and levels of fetal hemoglobin (Hb F). For this, the sample group (67 SCA patients), was divided into three subgroups: 25 (37.3%) were homozygous for the Bantu haplotypes (Bantu/Bantu), 26 (38.8%) heterozygous for the Bantu haplotype (Bantu/_) and 16 (23.0%) without the Bantu haplotype (_/_). The sample group was under use of HU for at least 300 days, without blood transfusion for 120 days and were all adults independent of the genus. The confirmation of homozygous Hb S and β S haplotypes was performed by PCR-RFLP; levels of lipid peroxidation (TBARS) were measured by the spectrophotometric method and plasmatic glycoproteins (Epo, Hp and Hpx) by enzyme immunoassay. Hematological parameters were provided by HEMORIO. The average of Hb F in the sample group was 12.1% and did not differ between the groups (p = 0.55), but the Bantu/_ showed an increase in the average, being Benin the second most frequent haplotype. The average values of Epo, Hp and Hpx did not differ between the subgroups, indicating... (Complete abstract click electronic access below)