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51.
Shimada A Takahashi Y Muramatsu H Hama A Ismael O Narita A Sakaguchi H Doisaki S Nishio N Tanaka M Yoshida N Matsumoto K Kato K Watanabe N Kojima S 《International journal of hematology》2012,95(6):675-679
Fanconi anemia (FA) is a disorder characterized by developmental anomalies, bone marrow failure and a predisposition to malignancy. It has recently been shown that hematopoietic stem cell transplantation using fludarabine (FLU)-based reduced-intensity conditioning is an efficient and quite safe therapeutic modality. We retrospectively analyzed the outcome of bone marrow transplantation (BMT) in eight patients with FA performed in two institutes between 2001 and 2011. There were seven females and one male with a median age at diagnosis = 4.5 years (range 2-12 years). The constitutional characteristics associated with FA, such as developmental anomalies, short stature and skin pigmentation, were absent in three of the patients. One patient showed myelodysplastic features at the time of BMT. All patients received BMT using FLU, cyclophosphamide (CY) and rabbit anti-thymocyte globulin (ATG) either from a related donor (n = 4) or an unrelated donor (n = 4). Acute graft-versus-host disease (GVHD) of grade I developed in one patient, while chronic GVHD was not observed in any patient. All patients are alive and achieved hematopoietic recovery at a median follow-up of 72 months (range 4-117 months). BMT using FLU/low-dose CY/ATG -based regimens regardless to the donor is a beneficial therapeutic approach for FA patients. 相似文献
52.
Fuster O Barragán E Bolufer P Such E Valencia A Ibáñez M Dolz S de Juan I Jiménez A Gómez MT Buño I Martínez J Cervera J Montesinos P Moscardó F Sanz MÁ 《Annals of hematology》2012,91(1):1-7
During last years, molecular markers have been increased as prognostic factors routinely screened in acute myeloid leukemia (AML). Recently, an increasing interest has been reported in introducing to clinical practice screening for mutations in the CCAAT/enhancer-binding protein ?? (CEBPA) gene in AML, as it seems to be a good prognostic factor. However, there is no reliable established method for assessing CEBPA mutations during the diagnostic work-up of AMLs. We describe here a straightforward and reliable fragment analysis method based in PCR capillary electrophoresis (PCR-CE) for screening of CEBPA mutations; moreover, we present the results obtained in 151 intermediate-risk karyotype AML patients (aged 16?C80?years). The method gave a specificity of 100% and sensitivity of 93% with a lower detection limit of 1?C5% for CEBPA mutations. The series found 19 mutations and four polymorphisms in 12 patients, seven of whom (58%) presented two mutations. The overall frequency of CEBPA mutations in AML was 8% (n?=?12). CEBPA mutations showed no coincidence with FLT3-ITD or NPM1 mutations. CEBPA mutation predicted better disease-free survival in the group of patients without FLT3-ITD, NPM, or both genes mutated (HR 3.6, IC 95%; 1.0?C13.2, p?=?0.05) and better overall survival in patients younger than 65 of this group without molecular markers (HR 4.0, IC 95%; 1.0?C17.4, p?=?0.05). In conclusion, the fragment analysis method based in PCR-CE is a rapid, specific, and sensitive method for CEBPA mutation screening and our results confirm that CEBPA mutations can identify a subgroup of patients with favorable prognosis in AML with intermediate-risk karyotype. 相似文献
53.
54.
Nagalo BM Bisseye C Sanou M Kienou K Nebié YK Kiba A Dahourou H Ouattara S Nikiema JB Moret R Zongo JD Simpore J 《Tropical medicine & international health : TM & IH》2012,17(2):247-253
Background and objective The high prevalence of numerous transfusion‐transmitted infectious diseases such as HIV, HBV, HCV and syphilis in sub‐Saharan Africa affects blood safety for transfusion recipients. The aim of this study was to evaluate the prevalence and incidence of transfusion‐transmissible infectious diseases among blood donors in Burkina Faso. Methods A retrospective study of blood donors’ records from January to December 2009 was conducted. Prevalence and incidence of viral infections were calculated among repeat and first‐time blood donors. Results Of the total of 31 405 first‐time volunteer blood donors in 2009, 24.0% were infected with at least one pathogen and 1.8% had serological evidence of multiple infections. The seroprevalence of HIV, HBV, HCV and syphilis in first‐time volunteer donors was 1.8%, 13.4%, 6.3% and 2.1%, respectively. In 3981 repeat donors, the incidence rate was 3270.2, 5874.1 and 6784.6 per 100 000 donations for anti‐HIV‐1, HBsAg and anti‐HCV, respectively. These numbers varied significantly according to populations where blood is collected and blood centres in Burkina Faso. Conclusion The relatively high prevalence of viral markers in first‐time volunteers and remarkably high incidence of infections in repeat donors raise concerns regarding the safety of these donors and suggest that implementation of NAT might significantly improve the situation. 相似文献
55.
Alejandro Balestracci Sandra Mariel Martin Ismael Toledo Caupolican Alvarado Raquel Eva Wainsztein 《Pediatric nephrology (Berlin, Germany)》2013,28(6):919-925
Background
Platelet transfusions should be avoided in children with post-diarrheal hemolytic uremic syndrome (D + HUS) because they might increase microthrombi formation, thereby aggravating the disease. As this possibility has not yet been explored, we investigated whether platelet transfusion in patients with D + HUS would lead to a worse disease course compared to that in patients who did not receive platelet transfusion.Methods
This was a case–control study in which data from D + HUS children who received platelet transfusions (cases, n? = ?23) and those who did not (controls, n? = ?54) were retrospectively reviewed and compared.Results
Both patient groups were similar in age (p?=?0.3), gender (p? =? 0.53), weight (p? = ?0.86), height (p? = ?0.45), prior use of non-steroidal anti-inflammatory drugs (p? = ?0.59) or antibiotics (p ?= ?0.45) and presence of dehydration at admission (p? = ?0.79). The two groups also did not differ in initial leukocyte count (p? = ?0.98), hematocrit (p? = ?0.44) and sodium (p? = ?0.11) and alanine aminotransferase levels (p? = ?0.11). During hospitalization, dialysis duration (p? = ?0.08), number of erythrocyte transfusions (p? =? 0.2), serum creatinine peak (p? = ?0.22), presence of severe bowel (p? = ?0.43) or neurologic (p? = ?0.97) injury, arterial hypertension (p? = ?0.71), need for intensive care (p? = ?0.33) and death (p? = ?1.00) were also comparable.Conclusion
Our findings suggest that platelet transfusion does not aggravate the course of the disease. Conversely, no hemorrhagic complications were observed in the group of patients who did not receive a platelet transfusion. Until these observations are confirmed by further studies, the benefits and risk of platelet transfusion should be thoughtfully balanced on an individual case basis. 相似文献56.
57.
Jos-Ramn Blanco Ramn Morillo Vicente Abril Ismael Escobar Enrique Bernal Carlos Folguera Ftima Braas Mercedes Gimeno Olatz Ibarra Jos-Antonio Iribarren Alicia Lzaro Ana Mario Mara-Teresa Martn Esteban Martinez Luis Ortega Julian Olalla Aguas Robustillo Matilde Sanchez-Conde Miguel-Angel Rodriguez Javier de la Torre Javier Sanchez-Rubio Montse Tuset 《European journal of clinical pharmacology》2020,76(3):305-318
58.
Taurine, an inducer for tau polymerization and a weak inhibitor for amyloid-beta-peptide aggregation
Taurine is an abundant aminoacid present in brain. Its concentration is decreased in the brain of Alzheimer's disease (AD) patients. The chemical structure of taurine is similar to 3-amino-1-propanesulfonic acid, a known compound which interferes with beta-amyloid peptide aggregation. Here, we have tested if taurine show similar properties. Taurine slightly decreases beta-amyloid peptide aggregation at a milimolar concentration. At that concentration, taurine favours the assembly of tau protein into fibrillars polymers. Thus, it is proposed that the negative charge present in taurine may be involved in the binding to tau protein, facilitating its assembly. In addition, the possible role of taurine in Alzheimer disease is commented. 相似文献
59.
Massad-Costa AM da Silva ID Affonso R Soares JM Nunes MG de Lima GR Baracat EC 《Maturitas》2007,57(4):399-404
OBJECTIVE: The aim of this study was to evaluate the presence of mutations in the coding region of the QM gene and fragile X in patients with premature ovarian failure and gonadal dysgenesis. METHODS: After approval by the local Ethics Committee, blood samples, in EDTA, of 100 normally ovulating women, 23 with premature ovarian failure (POF) and 14 with gonadal dysgenesis 46XX, aged less than 40 years, were screened for mutation in the QM gene coding region. All patients with POF have 46, XX karyotype and serum levels of follicle-stimulating hormone (FSH) over 30 mIU/mL. In addition, all samples from patients with premature ovarian failure underwent analysis for fragile X. RESULTS: The QM gene located at a hotspot region (Xq28) showed five points of mutations in a patient with premature ovarian failure. Four of them were able to change the amino acid sequence of the protein. None of our patients were diagnosed as having pre or mutant X fragile syndrome. CONCLUSION: Our study suggests that Xq28 (QM gene) may be involved in ovary failure. However, further studies are needed to confirm this hypothesis. 相似文献
60.
Prevalence of HBs antigen in blood donors in the Bouaké regional centre of blood transfusion in 2001
Kra O N'Dri N Ehui E Ouattara B Bissagnene E 《Bulletin de la Societe de pathologie exotique (1990)》2007,100(2):127-129
A prospective cross-sectional study was conducted in the regional center of blood transfusion in Bouaké from December 1, 2001 to February 28, 2002. One thousand two hundred thirty one new blood donors were tested. HBs Antigen detection was made according to ELISA technique (Hepanostika HBs Ag Uni-Form II). HBs Antigen prevalence in blood donors in Bouaké was 12.5%. One hundred fifty four blood donors were tested positive and were divided into 131 males (85%) and 23 females (15%). Their average age was 27, 5 years old (18-65 years). HBs Antigen carriage rate was lower in females and students. They were mainly pupils (62%) and had risk factors of hepatitis B infection (intramuscular injection, multiple sexual partners, unsafe sex). HBs Antigen carriage rate in blood donors is high in Bouaké and justifies the systematic screening of this Antigen in any blood donor to reduce the transfusion risk. On the other hand, it is necessary to modify the blood collection strategy in order to make the most of the donation and to decrease the residual risk. 相似文献