Objective To investigate the possibility of plastic and cosmetic operation incorporating epicanthoplasty with the double-eyelid procedure in one stage to achieve a more subtle scar in epicanthus patients with single eyelid. Methods After designing incision line of the epicanthic flap, double-eyelid line and the lower eyelid incision curved line, we cut the medial canthus skin transversely to reach a new medial canthus point, incised the part of front angle of medial palpebral ligamentum longitudinally and fixed the end point of front angle of medial palpebral ligamentum to nasal dorsum fascia firmly. Double eyelid operation was routinely performed to remove redundant small triangle skin as well as some patchy of orbicularis on the new medial canthus point. Along with eyelid edge about 1 to 2 mm to eyelash, the temporal side was cut with curved line till its disappearance by eyelid's "cat ear". The lower eyelid flap was separated downward and the superfluous flap and some patchy of orbicularis cut. The skin was su-tured to make postoperative scar hidden, blepharophimosis increased and the fold disappeared. Results 46 eyes (23 cases) were operated and satisfactory aesthetic results were obtained. Palpebral fissure was enlarged to 2 to 4 mm with epicanthic scar disappearance and formation of double-eyelid. Conclusions This is a simple and effective procedure with hidden epicanthic scar and the double-eyelid blepharoplasty could be performed simultaneously. Most patients receive satisfactory results during the 0.5 to 2 years' follow-up period except 2 cases with mild proliferation of epicanthus in half a year. It is especially suitable to correct the severe epicanthus palpebralis or epieanthus tarsalis.

OBJECTIVE: To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). METHODS: Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member. RESULTS: The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant. CONCLUSION The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.
Cerebellum/abnormalities* ; Child ; Developmental Disabilities ; Family ; Humans ; Mental Retardation, X-Linked ; Microcephaly/genetics* ; Nervous System Malformations

Objective To establish a simultaneous detection approach for 34 emerging contaminants(ECs)in tap water by liquid chromatography-tandem mass spectrometry(HPLC-MS/MS).Human health risk assessment was performed according to the detection results from 43 tap water samples.Methods Tap water samples were concentrated and extracted by solid phase extraction,and then blown to near dry by nitrogen at 40℃.The sample extracts were dissolved in methanol-water solution(95:5,VN)to 0.5 mL for analyzing.Agilent Jet Stream Electrospray Ionization(AJS ESI)and the multiple reaction monitoring(MRM)mode were performed for MS to acquire the data of 34 ECs.A database including precursor ion,product ion and retention times was established accordingly.Results The average linear correlation coefficients(r)of 34 kinds of ECs was 0.995 9.The limits of detection were 0.01～0.60 ng/L and the recoveries were between 60.7％and 119.8％.The intra-group precisions were between 0.05％～9.89％and the intra-day precisions were between 0.20％～14.40％for the spiked samples.The method was applied to analyze 43 tap water samples and a total of 15 ECs were detected.According to the results,the detection rate of caffeine was the highest(84％),and the concentration range was ND～74.42 ng/L.Among all the ECs detected,1,2,3-benzotriazole had the highest concentration(ND～361.15 ng/L),where detection rate was 44％.Humans may be exposed to these ECs by drinking the tap water.The human health risk assessments of 12 kinds of ECs were carried out,however,the estimated risk was negligible(risk quotient＜0.01).Conclusion The method is simple,highly sensitive and selective,and could meet the detection needs of ECs at trace level in tap water.There was no human health risk posed for ECs identified in 43 tap water samples analyzed by this method.

To investigate the degradation of polycyclic aromatic hydrocarbons (PAHs) and the changes of rhizosphere microorganisms in the rhizosphere soil of Leymus chinensis during the remediation of PAHs contaminated soil by Comamonas testosteroni (C.t)-assisted Leymus chinensis, we evaluated the removal of PAHs in the rhizosphere of Leymus chinensis using gas chromatography-mass spectrometry (GC-MS), analyzed the bacterial community and the diversity in Leymus chinensis rhizosphere soil by high-throughput sequencing technology, characterized the correlation among PAHs degradation and bacterial community components performing redundancy analysis (RDA) and network analysis, and predicted PAHs degradation potential via PICRUSt software in this paper. The degradation of PAHs in the rhizosphere of Leymus chinensis was promoted, the abundance and diversity of bacteria and the correlation among bacteria and PAHs were changed, and the degradation potential of PAHs in Leymus chinensis rhizosphere soil was enhanced in the later stage of phytoremediation (60-120 d) due to the incorporation of C.t. The accelerated degradation of three PAHs (Nap, Phe, BaP) was accompanied by the differ abundance and correlation of Proteobacteria (Sphingomonas, MND1, Nordella), Actinomycetes (Rubrobacter, Gaiella), Acidobacteria (RB41) and Bacteroides (Flavobacterium) affected by C.t. The results provide new insight into the microorganism choices for microbial assisted plant remediation of soil PAHs and the mechanisms of enhanced PAHs degradation via the combination of Comamonas testosteroni engineering bacteria and plants.
Biodegradation, Environmental ; Comamonas testosteroni/genetics* ; Polycyclic Aromatic Hydrocarbons/analysis* ; Rhizosphere ; Soil ; Soil Microbiology ; Soil Pollutants

Objective: To describe the MICM (morphology, immunology, cytogenetics and molecular biology) characteristics of a case of acute myelomonocytic leukemia M 4C . Methods: The medical history data of the case of M 4C admitted to our hospital was reviewed. The results of bone marrow cell morphology, cytochemical stains, bone marrow biopsy, immunophenotype, cytogenetics, molecular test and NGS (next-generation sequencing) of the case were analyzed. Results: The bone marrow smear showed markedly active proliferation of bone marrow cells in which the myelomonocytic cells accounted for 85.6%. Cytochemical stains showed peroxidase (POX) stain partially and weakly positive; specific esterase AS-DCE partially positive; non-specific esterase α-NBE partially positive and smothered by sodium fluoride; non-specific esterase AS-DAE partially positive and smothered by sodium fluoride. Bone marrow biopsy showed hyperproliferative cells and diffused hyperplasia of blasts. Immunophenotype analysis showed that the abnormal cell population was positive for CD11B, CD64, CD56, cMPO, CD33, CD41, CD61, CD38 and CD58, but negative for CD13, CD34, CD117, CD7, CD123, HLA-DR, CD10, CD19, CD20, CD2, CD14, CD235, CD15, CD303, CD304, CD25, cCD79a, cCD3, cCD22, CD1a and TDT. Cytogenetic analysis showed 47, XY, t(9;11) (p22;q23),+mar. The molecular test for leukemia showed MLLT3/KMT2A gene rearrangement. NGS showed NRAS and TET2 mutation. The case was finally diagnosed as AML (acute myelomonocytic leukemia) M 4C with t(9;11)(p22;q23), MLLT3-KMT2A. Conclusion Leukemia M 4C may show the characteristics of both granulocytes and monocytes with complex morphological features. The combined examination of MICM should be necessary for the diagnosis of M 4C with great significance.