ABSTRACT
Hematopoietic stem cell transplantation(HSCT), as a technique to reconstruct normal hematopoietic and immune function, has become a treatment option for a variety of malignant and non-malignant diseases in children.With the development of medical technology, the long-term survival rate of children after HSCT is significantly improved.At the same time, there is more concern and awareness about the late effects of HSCT.As one of the endocrine complications with the highest incidence in children after HSCT, gonadal damage leads to sex hormone secretion disorder, adolescent dysplasia, and infertility in adulthood, which has a serious influence on children′s mental health and quality of life.Therefore, it is helpful to reduce the psychological and economic burden on children and their families by understanding its potential mechanism, evaluating risk factors, screening early warning and recovery markers of gonadal function as well as taking corresponding preventive and protective measures.
ABSTRACT
Objective:To explore the efficacy of external treatment of integrated traditional Chinese and Western medicine on melanized type complicated with vascularized type of chloasma.Methods:A total of 82 patients (aged 26-50 years, with an average age of 44.5 years) with melanized type complicated with vascularized type of chloasma were selected, and randomly divided into groups: 28 cases in the traditional Chinese medicine control group were treated with traditional Chinese medicine pourmask combined with surrounded facial acupuncture; 26 cases in Western medicine control group underwent wet compress with 0.5% tranexamic acid solution. In the integrated Chinese traditional and Western medicine treatment group, 28 cases were treated with 2 regimens. After 8 weeks, MASI score was carried out, and vascular hyperplasia in skin lesions was observed by polari-light skin scope.Results:After treatment, the MASI scores in the three groups were all decreased, and the decreasing rate of MASI scores from high to low was as follows: Integrated Chinese traditional and Western medicine treatment group (8.60±4.53) > TCM control group (6.26±3.20) > Western medicine control group (4.39±2.11). After treatment, the vascular hyperplasia scores in the three groups were all decreased, and the value of vascular hyperplasia in the integrated Chinese traditional and Western medicine treatment group (2.57±0.63) and Western medicine control group (1.55±0.51) was greater than that in TCM control group (0.96±0.51), but there was no significant difference between the integrated Chinese traditional and Western medicine treatment group and Western medicine control group.Conclusions:External treatment of integrated traditional Chinese and Western medicine is effective in the treatment of melanized type complicated with vascularized type of chloasma, and wet compress with tranexamic acid solution can inhibit vascular hyperplasia in patients with chloasma.
ABSTRACT
In previous study, glutaric acid (GA) induced apoptosis of primary striatal neuron in vitro. In order to investigate the neurotoxic effects of GA on neonatal rat corpus striatum and the possible mechanism, 34 male pups were randomly assigned to NS group, low dose GA (LGA, 5 μmol GA/g body weight) group and high dose GA (HGA, 10 μmol GA/g body weight) group. These pups were subcutaneously administered with three injections from postnatal day 3 to 22 at 7:30 am, 15:00 pm and 22:30 pm and killed 12 h after the last injection. Microscopic pathology in corpus striatum was evaluated by HE staining. The apoptotic cells were identified by TUNEL staining. The transcript levels of caspase-3, 8, 9, Bax, Bcl-2 were detected by using real-time PCR and the protein levels of procaspase-3 and the active fraction were evaluated by Western blotting. In LGA and HGA groups, ventricle collapse, cortical atrophy by a macroscope and interstitial edema, vacuolations, widened perivascular space of bilateral striatum by a microscope were observed. TUNEL assay revealed that the apoptotic cells were increased in LGA and HGA groups. The transcript of caspase-3 was up-regulated to 2.5 fold, accompanied by the up-regulation of caspase-9, Bax and down-regulation of Bcl-2. The protein levels of procaspase-3 and the active fraction were up-regulated in LGA and HGA groups. The rat model for GA I showed mitochondrial apoptotic pathway may be involved in the GA-induced striatal lesion. Further studies should be taken to investigate the underlying mechanisms.
ABSTRACT
Methylmalonic aciduria (MMA) is a common inherited autosomal recessive disorder resulting from defects in the enzyme methylmalonyl CoA mutase (MCM, mut complementation group) or in the synthesis of the MCM cofactor adenosylcobalamin (cbl complementation groups). The defects in the mut complementation group accounts for the largest number of patients with isolated MMA. At least 200 mutations in the MUT gene on chromosome 6p12 have been identified in MMA patients until now. This study aimed to investigate the clinical characteristics of MMA and genomic variations in the MUT gene of Chinese patients. Genomic DNA was extracted from 18 patients who were diagnosed as having isolated MMA by gas chromatography/mass spectrometry (GC-MS), and from some of their parents as well. Amplification and direct sequencing of the MUT coding regions (exon 2-13) and their adjacent intronic consensus splice sites were performed in order to identify the disease causing mutations. In this group, six novel mutations in the MUT gene, c.424A>G (p.T142A), c.786T>G (p.S262R), c.808G>C (p.G270R), c.1323_1324insA, c.1445-1G>A and c.1676+77A>C were identified. p.T142A and p.G270R were respectively detected at a heterozygous level in one patient. Two previously reported mutations, c.682C>T (p.R228X) and c.323G>A (p.R108H) were also found in this study. In addition, six previously described single nucleotide polymorphism (SNP), c.636A>G (p.K212K), c.1495G>A (p.A499T), c.1595A>G (p.H532R), c.1992G>A (p.A664A), c.2011G>A (p.V671I) and c.1677-53A>G were identified. In this study, we updated the spectrum of MUT mutations and identified the main MMA-causing mutations in Chinese MMA patients.