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  • 1
    Online Resource
    Online Resource
    Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening
    Walter de Gruyter GmbH ; 2021
    In:  Clinical Chemistry and Laboratory Medicine (CCLM) Vol. 59, No. 1 ( 2021-01-26), p. 209-216
    Details
    In: Clinical Chemistry and Laboratory Medicine (CCLM), Walter de Gruyter GmbH, Vol. 59, No. 1 ( 2021-01-26), p. 209-216
    Abstract: Newborn screening (NBS) for β-thalassemia is based on measuring the expression of the hemoglobin A (HbA) fraction. An absence or very low level of HbA at birth may indicate β-thalassemia. The difficulty is that the HbA fraction at birth is correlated with gestational age (GA) and highly variable between individuals. We used HbA expressed in multiples of the normal (MoM) to evaluate relevant thresholds for NBS of β-thalassemia. Methods The chosen threshold (HbA≤0.25 MoM) was prospectively applied for 32 months in our regional NBS program for sickle cell disease, for all tests performed, to identify patients at risk of β-thalassemia. Reliability of this threshold was evaluated at the end of the study. Results In all, 343,036 newborns were tested, and 84 suspected cases of β-thalassemia were detected by applying the threshold of HbA≤0.25 MoM. Among the n =64 cases with confirmatory tests, 14 were confirmed using molecular analysis as β-thalassemia diseases, 37 were confirmed as β-thalassemia trait and 13 were false-positive. Determination of the optimum threshold for β-thalassemia screening showed that HbA≤0.16 MoM had a sensitivity of 100% and a specificity of 95.3%, whatever the GA. Conclusions NBS for β-thalassemia diseases is effective, regardless of the birth term, using the single robust threshold of HbA≤0.16 MoM. A higher threshold would also allow screening for carriers, which could be interesting when β-thalassemia constitutes a public health problem.
    Type of Medium: Online Resource
    ISSN: 1437-4331 , 1434-6621
    URL: Article
    DOI: 10.1515/cclm-2020-0803
    Language: English
    Publisher: Walter de Gruyter GmbH
    Publication Date: 2021
    detail.hit.zdb_id: 1492732-9
    SSG: 15,3
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  • 2
    Online Resource
    Online Resource
    Impact of renal function on hydroxyurea exposure in sickle‐cell disease patients
    Wiley ; 2021
    In:  British Journal of Clinical Pharmacology Vol. 87, No. 5 ( 2021-05), p. 2274-2285
    Details
    In: British Journal of Clinical Pharmacology, Wiley, Vol. 87, No. 5 ( 2021-05), p. 2274-2285
    Abstract: This prospective study aimed to develop a population pharmacokinetics (PK) model of hydroxyurea (HU) in patients with sickle cell disease. This model can be used to determine the impact of glomerular filtration rate (GFR) on HU kinetics. Methods We included 30 patients. They underwent HU pharmacokinetics analyses of plasma and urine. Six underwent PK analyses in 2 periods with and without angiotensin‐converting enzyme inhibitor. HU was assayed with a validated high‐performance liquid chromatography‐UV method. Noncompartmental PK analysis was conducted and a population PK model built with Monolix. This model was validated externally on another 56 patients. HU PK was simulated as a function of GFR. Results The HU PK model was constructed as a 2‐compartment model with first‐order absorption and elimination. The quality criteria were good, including for external validation. We found that estimated GFR (eGFR) and body weight affected HU PK, with lower eGFR or body weight associated with a higher HU area under the curve. We recommend the monitoring of HU through eGFR and body weight, which together account for 47% of its variability. Urinary HU fractions and renal clearance were higher in the glomerular hyperfiltration group and lower in the moderate chronic kidney disease group, respectively. No differences in nonrenal HU clearance were observed. Conclusion Estimated GFR has an impact on the kinetics of hydroxyurea, and HU dose should be adapted accordingly. Angiotensin‐converting enzyme inhibitor seems to have minor effect on HU PK in adults with sickle cell disease.
    Type of Medium: Online Resource
    ISSN: 0306-5251 , 1365-2125
    URL: Issue
    URL: Article
    DOI: 10.1111/bcp.v87.5
    DOI: 10.1111/bcp.14653
    RVK:
    XA 33650
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 1498142-7
    SSG: 15,3
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  • 3
    Online Resource
    Online Resource
    Perinatal zidovudine prophylaxis in HIV type-1-infected pregnant women with thalassaemia carriage in Thailand
    SAGE Publications ; 2009
    In:  Antiviral Therapy Vol. 14, No. 1 ( 2009-01), p. 117-122
    Details
    In: Antiviral Therapy, SAGE Publications, Vol. 14, No. 1 ( 2009-01), p. 117-122
    Abstract: To investigate a possible interaction between α-thalassaemia, β-thalassaemia and haemoglobin-E trait and the haematological parameters of HIV type-1 (HIV-1)-infected pregnant women receiving zidovudine prophylaxis for the prevention of mother-to-child HIV-1 transmission in Thailand. Methods The study sample was composed of HIV-1-infected pregnant women receiving zidovudine (300 mg twice daily) from 28 weeks of gestational age to delivery as part of the Perinatal HIV Prevention Trial (PHPT-1), a large trial investigating zidovudine use in pregnancy. These women were randomly selected and screened for haemoglobin abnormalities. Haemoglobin levels, haematocrit and erythrocyte, leukocyte, absolute neutrophil and absolute lymphocyte counts were measured at 26, 32 and 35 weeks of gestation and at delivery. PCR genotyping techniques were used to screen for haemoglobin abnormalities, which included α-thalassaemia-1 Southeast Asian type deletion, β-thalassaemia mutation (codons 41/42 [-TCTT], codon 17 [A→T] , intervening sequence-I nucleotide 1 [G→T], codons 71/72 [+A] ) and haemoglobin-E trait. The evolution of haematological parameters between 26 weeks and delivery was compared according to thalassaemia carriage using linear mixed models adjusted for baseline sociodemographic characteristics, HIV clinical stage, CD4 + T-cell count and viral load. Results At baseline, women with thalassaemia or haemoglobin-E trait had significantly lower haemoglobin level and red blood cell counts than women with no haemoglobin abnormalities, whereas absolute neutrophil and leukocyte counts were significantly higher. Exposure to zidovudine until delivery did not increase this difference. Conclusions Zidovudine exposure did not appear to have increased haematological toxicity in HIV-1-infected pregnant women with thalassaemia.
    Type of Medium: Online Resource
    ISSN: 1359-6535 , 2040-2058
    URL: Article
    DOI: 10.1177/135965350901400103
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2009
    detail.hit.zdb_id: 2118396-X
    SSG: 15,3
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