Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations:A case report

BACKGROUND Adult neuronal ceroid lipofuscinosis(ANCL)can be caused by compound heterozygous recessive mutations in CLN6.The main clinical features of the disease are neurodegeneration,progressive motor dysfunction,seizures,cognitive decline,ataxia,vision loss and premature death.CASE SUMMARY A 37-year-old female presented to our clinic with a 3-year history of limb weakness and gradually experiencing unstable walking.The patient was diagnosed with CLN6 type ANCL after the identification of mutations in the CLN6 gene.The patient was treated with antiepileptic drugs.The patient is under ongoing followup.Unfortunately,the patient’s condition has deteriorated,and she is currently unable to care for herself.CONCLUSION There is presently no effective treatment for ANCL.However,early diagnosis and symptomatic treatment are possible.

Defects Energetics and Electronic Properties of Li Doped ZnO： A Hybrid Hartree-Fock and Density Functional Study

The electronic properties and stability of Li-doped ZnO with various defects have been stud- ied by calculating the electronic structures and defect formation energies via first-principles calculations using hybrid Hartree-Fock and density functional methods. The results from formation energy calculations show that Li pair complexes have the lowest formation energy in most circumstances and they consume most of the Li content in Li doped ZnO, which make the p-type conductance hard to obtain. The formation of Li pair complexes is the main obstacle to realize p-type conductance in Li doped ZnO. However, the formation energy of Lizn decreases as environment changes from Zn-rich to O-rich and becomes more stable than that of Li-pair complexes at highly O-rich environment. Therefore, p-type conductance can be obtained by Li doped ZnO grown or post annealed in oxygen rich atmosphere.

Mechanical properties of Mn-doped ZnO nanowires studied by first-principles calculations

First-principles calculations were performed to investigate the mechanical properties of ZnO nanowires and to study the doping and size effects. A series of strains were applied to ZnO nanowires in the axial direction and the elastic moduli of ZnO nanowires were obtained from the energy versus strain curves. Pure and Mn-doped ZnO nanowires with three different diameters （1.14, 1.43, and 1.74 nm） were studied. It is found that the elastic moduli of the ZnO nanowires are 146.5, 146.6, and 143.9 GPa, respectively, which are slightly larger than that of the bulk （140.1 GPa）, and they increase as the diameter decreases. The elastic moduli of the Mn-doped ZnO nanowires are 137.6, 141.8, and 141.0 GPa, which are slightly lower than those of the undoped ones by 6.1%, 3.3%, and 2.0%, respectively. The mechanisms of doping and size effect were discussed in terms of chemical bonding and geometry considerations.

Aptamer-Based Cell-Surface Profiling with Single-Cell Resolution Enables Precise Cancer Characterization

Molecular profiling of cell-surface proteins is a powerful strategy for precise cancer diagnosis.While mass cytometry(MC)enables synchronous detection of over 40 cellular parameters,its full potential in disease classification is challenged by the limited types of recognition probes currently available.In this work,we synthesize a panel of heavy isotopeconjugated aptamers to profile cancer-associated signatures on the surface of hematological malignancy(HM)cells.Based on 15 molecular signatures,we performed cell-surface profiling that allowed the precise classification of 8 HM cell lines.Combined with machine-learning technology,this aptamer-based MC platform also achieved multiclass identification of HM subtypes in clinical sampleswith 100%accuracy in the training cohort and 80%accuracy in the test cohort.Therefore,we report an effective and practical strategy for precise cancer classification at the singlecell level,paving the way for its clinical use in the near future.

Hot Rolled Strip Re-reddening Temperature Changing Law during Ultra-fast Cooling

Temperature deviation between surface and the center of hot rolled strip is formed during ultra-fast cooling （UFC）. Surface temperature would rise when temperature deviation goes up to an extent, and strip re-reddening phenomenon will appear. Strip re-reddening affects the stability of strip microstructure, property and temperature control precision. Thus, it is necessary to conduct research on re-reddening temperature changing law to improve strip property and temperature control precision. Strip temperature trends for various strip thicknesses and ultra-fast cooling rates were obtained by numerical calculation method. Re-reddening temperature, temperature deviation between surface and center, and boundary layer position changing law were obtained. By comparison, some conclusions were obtained： UFC re-reddening temperature and laminar cooling （LC） re-reddening temperature were linear to ultra-fast cooling rate respectively. Ultra-fast cooling rate affected UFC re-reddening temperature greatly, but it had little effect on LC re-reddening temperature. Equations which were used to calculate UFC re-reddening temperature, LC re-reddening temperature and maximum temperature deviation were obtained. The position of boundary layer stayed in 1/4 strip thickness.

Improvements on the particle identification with dead cell and side leakage corrections for the electromagnetic calorimeter of the Alpha Magnetic Spectrometer

Background The electromagnetic calorimeter(ECAL)of the Alpha Magnetic Spectrometer(AMS-02)measures the energy of electrons/positrons and separates them from protons.Currently,there are five dead cells in the ECAL which affect the reconstructed energy of particles.The particle identification power of the ECAL decreases when particles pass through these dead cells or close to the ECAL border.Purpose To improve the ECAL particle identification for particles pass through these dead cells or close to the ECAL border.Methods An improved ECAL particle identification estimator using the electromagnetic shower shape is developed with dead cell and side leakage corrections.Results For events passing through dead cells,with this new estimator,the proton rejection power is improved by a factor of 2.2 and positron purity is improved from 31 to 50%in the energy range of 500–800 GeV.Conclusion The new estimator works well for event passing through dead cells or close to the ECAL border.

A new paradigm for artesunate anticancer function:considerably enhancing the cytotoxicity via conjugating artesunate with aptamer

Dear Editor,Artemisinin and its derivatives(AIDs)have recently been widely applied in cancer therapy as promising therapeutic agents owing to its hypotoxicity and special bioactivation pathways.Though numerous strategies have been established to improve the potency of AIDs,they are still relatively inefficacious against cancers,especially as a monotherapy.^(1)It is thus essential to develop novel approaches to considerably enhance their anticancer efficacy.We hypothesized that aptamers with specific recognition,high-affinity binding,and receptor-mediated internalization would promote the accumulation of AIDs inside the target cells and lead to death of the target cancer cells.^(2)

Improvement in the 3D shower shapes description in the Monte Carlo simulation for a lead-scintillating fiber electromagnetic calorimeter

Background The lead-scintillating fiber electromagnetic calorimeter(ECAL)of the Alpha Magnetic Spectrometer measures the energy of positrons/electrons and separates them from hadrons.The electromagnetic shower shapes from Monte Carlo(MC)simulation and data show disagreement.Purpose Tuning the MC to make the shower shapes from MC and data agree with each other.Methods The tuning is based on a 3D electromagnetic shower model.Results After tuning,the electromagnetic shower shapes are well described by MC up to TeV.As a result,the output of ECAL electron/proton separation estimator,ECAL BDT,shows thatMCand data are in good agreement.The proton rejection power of the ECAL BDT trained with MC electron samples is improved by a factor of 5 at∼800 GeV compared to the one trained with data.

Molecularly Engineered Aptamers Targeting Tumor Tissue and Cancer Cells for Efficient in Vivo Recognition and Enrichment

Molecular engineering of aptamers can confer exogenous biomedical properties that may be beneficial for various applications.In this study,a tumor-homing peptide modification strategy was developed to considerably enhance the accumulation and penetration abilities of the Sgc8c aptamer.Notably,the S2PM conjugate induced a much higher level of morphological variation in three-dimensional tumor microspheres(HCT116 cells)than in control groups,highlighting the importance of the homing and penetrating abilities derived from peptide.