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191.
The use of corticosteroid therapy for the treatment of acute chest syndrome (ACS) in patients with sickle cell disease has been infrequently used owing to concerns for rebound pain. Here, we report a cohort of patients<21 years of age with sickle cell disease treated between January 2001 and June 2006 for severe ACS with both corticosteroids and transfusion therapy. We reviewed 53 episodes of severe ACS with an average hospital duration of 4.9 days. Only 1 patient out of 6 who were transferred to the intensive care unit required intubation. None of the ACS episodes resulted in death and none of the 4 readmissions after discharge were due to pain. There was no acute toxicity related to either corticosteroid or transfusion therapy. 相似文献
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Cristian A. Alvarez Rojas Beatriz Cancino-Faure Pablo Lillo María Luisa Fernndez Alejandro Pieiro Gonzlez Alonso Flores Ramírez 《Emerging infectious diseases》2023,29(2):439
We report a case of Dirofilaria immitis nematode infection in a dog imported from Venezuela that had been living for 2 years in Santiago, Chile, where this parasite had not been reported before. Our findings warrant surveillance for all dogs imported to Chile, given that suitable conditions exist for establishing this parasite. 相似文献
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Roberta Trunzo Rosa Santacroce Giovanna D'Andrea Vittoria Longo Giuseppe De Girolamo Claudia Dimatteo Angelica Leccese Vincenza Lillo Francesco Papadia Maurizio Margaglione 《Clinical biochemistry》2013
Background
Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.1) are associated with various degrees of hyperphenylalaninemia (HPA), including classical phenylketonuria (PKU).Objective
The aim of the study was to determine the mutations responsible for mild forms of HPA and to relate different clinical phenotypes of HPA patients to their PAH genotypes in order to better predict the clinical phenotype and implement optimal dietary therapy and prognosis in newborns with the disease.Methods
Phenylalanine hydroxylase (PAH) gene mutations have been analyzed by direct DNA sequencing in 30 HPA patients (Phe levels ranging from 2 to 6 mg/dL) from Southern Italy who were identified in a neonatal screening program and a genotype–phenotype correlation was performed.Results
PAH gene mutation was identified in 39 out of 60 alleles with a mutation detection rate of 65%. Eighteen mutations, 2 undescribed, were observed (13 missense mutations, 1 deletion, 4 splice site mutations). Using the “in vitro” predicted residual activity, a good genotype–phenotype correlation was obtained also in a new mild HPA case, a PAH compound heterozygote, previously undetected.Conclusion
A marked genetic heterogeneity was found in HPA patients from Southern Italy and a good genotype–phenotype correlation was obtained. Identification of PAH gene mutations responsible for PAH deficiency will therefore be useful in the prediction of biochemical and clinical phenotypes in HPA patients. 相似文献197.
198.
Lillo FB Grasso MA Lodini S Bellotti MG Colucci G 《Journal of virological methods》2004,120(2):201-205
Recent studies have suggested that monitoring the amount of HIV provirus in peripheral blood mononuclear cells (PBMCs) may be a useful end point for HAART where, in combination with plasma viral load, it provides additional information as to the possibility of virus eradication. In the present study, a modified version of the Cobas Amplicor HIV-1 Monitor test (CAHIM), currently used to quantify plasma viremia, have been evaluated to also measure the amount of proviral DNA in PBMCs. The analytical and clinical performance of the modified CAHIM test was assessed by quantifying different amounts of a standard HIV-DNA preparation obtained from the 8E5 cell line and by analysing 165 patients and controls samples. In these experiments, the modified test, that showed a linear dynamic range from 1.7 to 4.7 log10 copies/106 cells (r = 0.99) with a maximum CV of 20%, proved able to detect and quantify HIV-DNA in all but one clinical samples, with concentrations varying from 1.3 to 3.8 log10 copies/106 cells. During anti-retroviral treatment, the assay revealed different proviral DNA time courses associated with viral load changes and inversely correlated with CD4+ cells count. As expected, HIV-DNA was always detectable even when plasma viremia fell below the CAHIM cut-off. The modified CAHIM test specificity was confirmed by testing 20 HIV-negative samples in triplicates. Taken together, the data showed that the modified CAHIM test can be used to monitor HIV proviral DNA changes during HAART and can help in investigating further the clinical use of this marker. 相似文献
199.
G Regina G Impedovo D Angiletta V Marotta A Lillo F Pestrichella R De Blasi 《European journal of vascular and endovascular surgery》2006,32(1):107-109
Congenital arteriovenous fistulas (AVF) without associated vascular malformations are uncommon. Only a very few cases of AVF have been reported in the neck. We describe our findings in a patient with AVF treated by a combined vascular and endovascular approach. 相似文献
200.