Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.

BACKGROUND: Vanishing white matter (VWM) is an autosomal recessive disorder characterized by childhood ataxia with central hypomyelination. Adult-onset VWM should be considered as a differential diagnosis for suspected cases of multiple sclerosis (MS). METHODS: Targeted region sequencing (TRS) and Sanger sequencing validation were performed to identify and validate the likely pathogenic mutations in a family with VWM. RESULTS: The main clinical manifestations of the proband included decreased vision and sleepiness accompanied by atrophy of the corpus callosum, affected inner rim of the corpus callosum, decreased apparent diffusion coefficient value or persistent hyperintensity-diffusion-weighted imaging, atrophied optic nerve, and no recordable visual evoked potentials. Due to the slow development and atypical VWM image features, MS was initially suspected. After prednisone was administered, the patient's condition did not improve significantly, and other diseases were considered. The TRS and Sanger sequencing identified compound heterozygous mutations of EIF2B3 in the proband; c.965C > G /p.Ala322Gly in exon 8 and c.130G > A/p.Glu44Lys in exon 2 were missense mutations inherited from the mother and father, respectively. The proband's oldest brother had the same compound heterozygous mutations but showed no symptoms. CONCLUSION: This is the first report of adult-onset VWM in a Chinese family. Initially, MS was suspected, and genetic testing confirmed the diagnosis of VWM. This study may further broaden the clinical spectrum of EIF2B3, thus providing a foundation for further research on the pathogenesis and genetic therapy for VWM.

Fibrous Materials Based on Polymeric Salicyl Active Esters as Efficient Adsorbents for Selective Removal of Anionic Dye.

To increase the performance efficiency and decrease the costs for organic dye wastewater purification, two fibrous adsorbents based on polymeric salicyl active esters were developed by means of a simple two-step approach. For the first time, salicyl-based active ester polymers were electrospun into fibrous membranes and subsequently postmodified with the desired functional groups under simple and mild reaction conditions. The morphology of the produced fibrous adsorbents was characterized by scanning electron microscopy (SEM), the surface properties were analyzed by nitrogen adsorption/desorption isotherms and contact angle measurements, and the completeness of the postmodification process was determined by Fourier transform infrared (FTIR) and elemental analyses. The adsorbents were further tested for their adsorption and selectivity performance of different organic dyes as well as for their recyclability. To explore the adsorption mechanism, four kinetic models and three isotherm models were used to analyze the adsorption data. The results indicated that the fibrous adsorbents showed an extremely high adsorption capacity for the anionic dye methyl blue. The fibrous adsorbents were also able to selectively adsorb anionic dyes from a mixture of anionic and cationic dyes, and they could be recycled at least 10 times. The simple and cost-efficient development process of these fibrous adsorbents and their excellent performance make them promising materials for further research and application in the area of water treatment.

The copper-catalyzed aerobic oxidative amidation of tertiary amines.

A general and efficient method for the synthesis of tertiary amides has been developed via the copper-catalyzed aerobic oxidative amidation of tertiary amines. Due to the use of the O2 oxidant, various functional groups were well tolerated under the present conditions. Extensive substrates studies demonstrated its potential as a practical approach for the synthesis of tertiary amides.

Palladium-Catalyzed Oxidative Arylation of Tertiary Benzamides: Para-Selectivity of Monosubstituted Arenes.

A mild and efficient protocol for the high para-selective arylation of monosubstituted arenes with tertiary benzamides has been developed via palladium-catalyzed oxidative coupling reactions. Due to the mild conditions and the easy availability of substrates and oxidant, this method could potentially provide a practical approach for the synthesis of para-substituted biaryl compounds.