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1.
Clin Biochem ; 94: 80-82, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33901469

ABSTRACT

Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the ß globin chain, resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a wide phenotypical spectrum, and the prevalence of these disorders has significantly changed over the time because of multiple factors such as migration. We report a case of a 17-year-old black male, born in Gambia, diagnosed with sickle cell disease, who presented an associated mutation only described in a Japanese family (Oshima et al., 1996).


Subject(s)
Anemia, Hemolytic/genetics , Mutation/genetics , Thalassemia/genetics , Adolescent , Hemoglobinopathies/genetics , Humans , Male
2.
Hematol Rep ; 13(1): 8574, 2021 Mar 05.
Article in English | MEDLINE | ID: mdl-33747409

ABSTRACT

Hemorrhagic cystitis (HC) secondary to BK polyomavirus (BKPyV) is a frequent complication related to allogenic stem cell transplantation. With an important morbidity and mortality, this disease doesn't have a stablished standard treatment or prophylaxis strategies. At this moment, the supportive therapies approved to treat included hyperhydration, forced diuresis and transfusion support. Cidofovir is a nucleotide analog of deoxycytidine monophosphate against DNA viruses and it has been described for the treatment of BKPyV-HC, but at this moment, is not a front-line therapy. We report a successful case after the use of Cidofovir without Probenecid. No adverse effect was developed under the treatment, and after 4 weeks of treatment, the patient achieved an excellent response.

3.
Ecotoxicol Environ Saf ; 73(7): 1565-73, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20132985

ABSTRACT

To monitor the health of aquatic organisms, biomarkers have been used as effective tools in assessing environmental risk. In this study was examined the teleost Coris julis, sampled in two marine sites in Messina (Italy) at different pollution degree, Milazzo, characterized by a strong anthropogenic impact, and Marinello, the natural reserve. C. julis is a species particularly suitable to biomonitoring because its feeding habits favor bio-accumulation of xenobiotics. The following biomarkers were used to estimate the impact of highly persistent pollutants: cellular localization of cytochrome P4501A (CYP1A) and glutathione-S-transferase (GST) in the liver, their hepatic expression at the mRNA level, the enzymatic activity (EROD and BPMO), the micronucleus and comet assays in the blood, esterases (AChE in the brain and BChE in the blood) activity and evaluation of PAH metabolites in the bile. The present findings provide evidence of statistically significant differences in parameters between individuals collected in two sites.


Subject(s)
Biomarkers/metabolism , Environmental Monitoring/statistics & numerical data , Environmental Pollutants/metabolism , Perciformes/metabolism , Animals , Bile/chemistry , Biomarkers/blood , Comet Assay , Cytochrome P-450 CYP1A1/metabolism , Environmental Monitoring/methods , Environmental Pollutants/toxicity , Glutathione Transferase/metabolism , Italy , Liver/enzymology , Mediterranean Sea , Micronucleus Tests , Polycyclic Aromatic Hydrocarbons/metabolism
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