Background: T-cell acute lymphoblastic leukemia (T-ALL) is an uncommon and aggressive subtype of acute lymphoblastic leukemia (ALL). In the serum of T-ALL patients, the activity of lactate dehydrogenase A (LDHA) is increased. We proposed that targeting LDHA may be a potential strategy to improve T-ALL outcomes.
View Article and Find Full Text PDFPurpose: To determine the genetic etiology of deafness in a family (HN-SD01) with autosomal dominant nonsyndromic hearing loss (NSHL).
Methods: Stepwise genetic analysis was performed on family HN-SD01, including hotspot variant screening, exome sequencing, virtual hearing loss gene panel, and genome-wide linkage analysis. Targeted region sequencing was used to screen ABCC1 in additional cases.
Background: In China, register nurses (RNs) have a high risk of occupational exposure to blood/body fluids. The adherence behavior related to self-reporting of occupational exposure needs to be evaluated to protect RNs from healthcare-related infections.
Objectives: To assess adherence behaviors for self-reporting of occupational exposure to blood and body fluids among RNs and identify factors affecting self-reporting in Hunan Province, China for developing upgraded strategies.
Previous reports have shown that active JAK2 contributes to T cell acute lymphoblastic leukaemia (T-ALL) development and that JAK inhibitors may be a potential treatment for T-ALL. In the current study, the JAK2 inhibitor TG101209 was used to treat T-ALL cell lines and primary T-ALL cells. The effects of TG101209 on T-ALL cells were determined, and the signaling proteins related to cell growth, apoptosis and autophagy were analysed.
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
August 2017
Objective: To analyze a hereditary hemorrhagic telangiectasia(HHT) family Activin receptor-like kinase 1(ACVRL1), Endoglin (ENG) and Mothers against decapentaplegic homolog 4 (MADH4, SMAD4) gene mutation, meanwhile, to observe the curative effect of thalidomide in treatment of HHT patients.
Methods: The clinical feature of the HHT family was analyzed, the polymerase chain reaction (PCR) combined with Sanger sequencing of ACVRL1, ENG and SMAD4 were used to investigate the proband. The suspicious mutations were further detected in the other 7 family members.
Zhongguo Shi Yan Xue Ye Xue Za Zhi
August 2017
Objective: To investigate the clinical characteristics of 31 acute myeloid leukemia (AML) patients with chromosome 21 aberrations.
Methods: Karyotypes of 168 newly diagnosed AML patients in Second Xiangya Hospital from Jan 2014 to July 2016 were reviewed for the presence of chromosome 21 aberrations (accounting for 18.45%).
Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by recurrent epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations. The efficacy of traditional treatments for HHT is very limited. The aim of this study was to investigate the therapeutic role of thalidomide in HHT patients and the effect in FLI-EGFP transgenic zebrafish model.
View Article and Find Full Text PDFAbstract Fungal infection is a rare complication of acute leukemia, in which a combination of voriconazole and amphotericin B is a first-line regimen of treatment. Here administration of itraconazole plus caspofungin resulted in a dramatic response in a patient with acute promyelocytic leukemia (APL).
View Article and Find Full Text PDF