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Objective: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS)., Methods: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis., Results: A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function., Conclusion: The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.

Objective: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS)., Methods: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis., Results: A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin_N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein., Conclusion: The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.

Objective: To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD)., Methods: The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all coding exons and splicing sites of the ARSA gene were subjected to Sanger sequencing. PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. Ucsf chimera software was used to analyze the impact of candidate variants on the secondary structure of the protein product. Impact of potential variants was also analyzed with software including PolyPhen-2, Mutation Taster, SIFT and PROVEAN. Whole-exome sequencing was carried out to identify additional variants which may explain the patient's condition., Results: The proband was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*)], neither of which was reported previously. As predicted by Ucsf chimera software, the c.960G>A (p.Trp320*) variant may demolish important secondary structures including α-helix, β-strand and coil of the ARSA protein, causing serious damage to its structure and loss of function. The c.467G>A (p.Gly156Asp) variant was predicted to be "probably damaging" by PolyPhen-2, Mutation Taster and SIFT software., Conclusion: The patient's condition may be attributed to the compound heterozygous c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*) variants of the ARSA gene. Above results have facilitated genetic counseling and prenatal diagnosis for this family.

We investigated the adsorption performance of five Fe-based MOFs (Fe-BTC, MIL-100(Fe), MIL-101(Fe), MIL-53(Fe) and MIL-88C(Fe)) for removal of antimonite (Sb(III)) and antimonate (Sb(V)) from water. Among these MOFs, MIL-101(Fe) exhibited the best adsorption capacities for both Sb(III) and Sb(V) (151.8 and 472.8mg/g, respectively) which were higher than those of most adsorbents previously reported. The effect of steric hindrance was evident during Sb removal using the Fe-based MOFs, and the proper diameter of the smallest cage windows/channels should be considered an important parameter during the evaluation and selection of MOFs. Additionally, the adsorption capacities of MIL-101(Fe) for Sb(V) decreased with increasing initial pH values (from 3.0 to 8.0), while the opposite trend was observed for Sb(III). Chloride, nitrate and sulfate ions had a negligible influence on Sb(V) adsorption, while NO 3 - and SO 4 2- improved Sb(III) adsorption. This result implies that inner sphere complexes might form during both Sb(III) and Sb(V) adsorption., (Copyright © 2019. Published by Elsevier B.V.)

Objective: To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD)., Methods: Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations., Results: The infant was found to carry compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) of the HEXB gene. The c.1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in β subunit of the Hex protein. The c.1652G>A(p.Cys551Tyr) mutation, unreported previously,was predicted to be probably damaging by Bioinformatic analysis., Conclusion: Compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.

EBV-associated myoid tumor (EBVMT) comprises a specific group of soft tissue tumors with divergent histologic appearances, which typically occur in immunocompromised patients. To the best of our knowledge, there have been no previous reported of EBVMT in patients with normal immunity. EBVMT with lipoblast-like cells (EBVMT-LIC) is an extremely rare variant of EBVMT. Here, a male patient with normal immunity and EBVMT-LIC is presented. Comprehensive EBV latency expression pattern and tumorigenesis molecular analyses are performed to detail the pathologic features of this disease. Our patient was a 14-year-old who suffered from Burkitt's lymphoma 6 years ago and got complete remission for 5 years. At his last visit, he presented with pain and weakness in arms and legs. Subsequent MRI revealed an extramedullary mass at the cervical areas. CT-guided resection was then performed and comprehensive histopathologic examination was conducted. We found a haemangiopericytoma-like pattern with EBER-positive lipoblasts exist in this neoplasm and these features were in accordance with the diagnosis of EBVMT-LIC. Also, the EBV type I latency pattern was observed and the activation of Akt/mTOR pathway and Bcl-2 overexpression were found to be involved in the tumorigenesis of EBVMT-LIC. In conclusion, the results of this study suggest that EBVMT can occur in patients with normal immunity. EBV could achieve a latency type I pattern and may promote the development of EBVMT by activation of Akt/mTOR pathway and Bcl-2 overexpression. The role of chronic latent EBV infection in the development of EBVMT may be more important than previously thought., Competing Interests: None., (IJCEP Copyright © 2019.)

Objective: To study the effects of decabrominated biphenyl ether (BDE-209) exposure on differentiation capacity of human embryonic stem cells., Methods: Human embryonic stem cell line FY-hES-10 cells were exposed to the concentrations of 0 (solvent control), 1, 10 to 100 nmol/L BDE-209 for 96 h and then were differentiated into embryoid bodies (EBs) in vitro. The RNA of EBs derived from FY-hES-10 cells at Day 10 was collected. OCT4,three-layer differentiation-related genes (AFP,SMA and PAX6) and oxidative stress-related genes (HIF1a, HIF2a and SOD1) expression was detected by Q-PCR. The contents of SOD was measured by using kit., Results: Compared with the solvent control group, the expression levels of OCT4, SMA, HIF1a and HIF2a in BDE-209 exposure groups were increased, the expression levels of AFP, PAX6 and SOD1 were decreased, with statistically significant differences (P < 0.05). With the increase of the BDE-209 dose, the expression levels of OCT4 showed an increasing trend while the expression levels of SOD1 and the activity of the SOD showed a decreasing trend., Conclusion: BDE-209 may interfere with differentiation capacity of human embryonic stem cells resulting in developmental toxicity.

Objective: To analyze the correlation between environmental factors and the lipophilic and hydrophilic constituents of Polygalae Radix., Method: The contents of lipophilic constituent were determined by GC-MS and hydrophilic constituents by HPLC. Geographical factors were collected by on-site inspection and climate factors by the local meteorological data. The relationship between the content of the lipophilic and hydrophilic constituents and the factors were analyzed by SPSS 18.0., Result: There was linear relationship between the content of lipophilic constituent and climate factors such as average temperature of July, average temperature of January. There was also linear relationship between hydrophilic constituents and climate factors such as annual average temperature, latitude, annual average rainfall., Conclusion: The main climate factors that affect liposoluble constituent content were average temperature of July, average temperature of January, and the main climate factors that affect hydrophilic constituent content were annual average temperature, latitude, annual average rainfall. The study would contribute to the quality evaluation and suitability of origin of Polygalae Radix.