Background: X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) is the most frequent phenotype.
Objective: We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death.
Methods: Diagnosis was based on clinical symptoms, an abnormal very long chain fatty acid profile in plasma, typical CCALD MRI pattern, and molecular analysis.
Results: Direct sequencing of the ABCD1 gene in this patient identified a novel splicing mutation (IVS1+1G>A) in intron 1, which is considered to be the pathogenic mutation.
Conclusion: We have identified a novel ABCD1 mutation as the likely cause of CCALD in a Chinese patient
The hot deformation characteristics of a AZ81E magnesium alloy are studied in the RANGE temperatures from 340 to 430 °C and strain rates ranging between 0.003 and 3.0 s−1 utilizing hot compression tests. Combining Arrhenius equation and Zener-Hollomon parameter, the high temperature flow stress model is proposed and the average activation energy is 166.15 kJ/mol. Processing maps for hot working are developed on the basis of the efficiency of power dissipation with changing temperatures and strain rates. The power dissipation map reveals that the optimum hot working domain is the temperature range of 390–400 °C and strain rate range of 0.03–0.3 s−1.
For a series of active phosphonate esters, the anhydride abbreviated as ANPTA (6a) exhibits the highest reactivity in the preparation of ceftriaxone. The synthesis of ceftriaxone was optimized with the pilot-scale yield reaching 95.7%. The results were explained from the structural viewpoint and supported by analysis of the calculated Mulliken atomic charge distribution.
Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA.
A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP. Reproducibility and specificity of the two assays were compared to a multiple ligation-dependent probe amplification (MLPA) assay. To evaluate reproducibility, 30 samples were analyzed three times using the three assays. A total of 317 samples were used to assess the specificity of the two assays.
The multiplex quantitative PCR (qPCR) assay had higher reproducibility. Intra-assay CVs were 3.01%–8.52% and inter-assay CVs were 4.12%–6.24%. The CNVplex assay had ratios that were closer to expected (0.49–0.5 for one copy, 1.03–1.0 for two copies, and 1.50–1.50 for three copies). Diagnostic accuracy rates for the two assays were 100%.
The multiplex qPCR assay was a simple, rapid, and cost-effective method for routine SMA diagnosis and carrier screening. The CNVplex assay could be used to detect SMAs with complicated gene structures. The assays were reliable and could be used as alternative methods for clinical diagnosis of SMA.
Three new shionane-type triterpenes, shion-22-methoxy-20(21)-en-3-one (1), shion-22(30)-en- 3,21-dione (2), shion-22-methoxy-20(21)-en-3β -ol (3), were isolated from the rhizomes of Aster tataricus. Their structures have been determined on the basis of MS, IR, 1D and 2D NMR spectral evidences. Compounds 1 and 2 show inhibitory activities on HBsAg with IC50 values of 0.89 and 4.49 μgmL−1, respectively, 1 shows inhibitory activity on HBeAg with an IC50 value of 0.83 μgmL−1, and 2 shows inhibitory activity on HA with an IC50 value of 11.18 μgmL−1.
Two minor taxane glycosides were isolated for the first time from the needles of Taxus canadensis. Their structures were characterized as 2α,5α-diacetoxy-10β-(6′-O-acetyl-β-d-glucopyranosyl)oxy-14β-[(2′R,3′S)-3′-hydroxy-2′-methylbutanoyl]oxytaxa-4(20),11-diene (1) and 2α,14β-diacetoxy-10β-(β-d-glucopyranosyl)oxytaxa-4(20),11-dien-5β-ol (2) on the basis of 1D and 2D NMR data analysis and confirmed by high-resolution fast atom bombardment mass spectrometry.
The genus Ajuga, a member of the Lamiaceae family, is comprised of more than 300 species of annual and perennial herbaceous flowering plants mainly distributed throughout the temperate regions of Asia, Europe, Australia, North America and Africa. These plants are used as folk medicines effective for rheumatic fevers, dysentery, malaria, hypertension, diabetes and gastrointestinal disorders, as well as anthelmintic, astringent, febrifuge diuretic, antifungal and anti-inflammatory agents. A variety of constituents has been isolated from these plants. This review summarizes the phytochemical progress of the genus Ajuga and lists the compounds isolated up to 2014.