[Analysis of a Chinese pedigree affected with Spinal muscular atrophy due to compound heterozygous variants of SMN gene].

OBJECTIVE: To analyze variants of SMN gene in a Chinese pedigree affected with Spinal muscular atrophy (SMA). METHODS: A Chinese pedigree diagnosed at the Nanchang First Hospital in January 2020 was selected as the study subject. Peripheral blood samples were collected for the extraction of DNA. All exons of the SMN gene were detected by multiple ligation-dependent probe amplification (MLPA). Potential variants of the SMN gene were also detected by Whole exome sequencing (WES), and the result was verified by Sanger sequencing. cDNA extracted from fresh blood sample was used as a template to verify the location of variant on the SMN genes. RESULTS: The proband was found to harbor a heterozygous deletion of the SMN1 Exon7+Exon8, and a heterozygous c.81G>A variant. The SMN1 Exon7+Exon8 deletion was inherited from her father and grandmother, whilst the c.81G>A variant was inherited from her mother and maternal grandfather. Her aunt was also a carrier of the heterozygous deletion, while her paternal aunt, her husband, and their daughter were not. cDNA amplification and Sanger sequencing confirmed that the c.81G>A variant was located in the SMN1 gene. CONCLUSION: MLPA combined with NGS and Sanger sequencing can identify compound heterozygous variants of the SMN gene in the SMA patients.

An impending inhibitor useful for the oil and gas production industry: Weight loss, electrochemical, surface and quantum chemical calculation.

The influence of a Schiff base namely N,N'-(pyridine-2,6-diyl)bis(1-(4-methoxyphenyl) methanimine) (PM) on the corrosion of J55 and N80 steel in 3.5 wt.% NaCl solution saturated with CO2 was evaluated using weight loss, potentiodynamic polarization, electrochemical impedance spectroscopy (EIS), X-ray diffraction (XRD), contact angle, scanning electron microscopy (SEM), atomic force microscopy (AFM) and scanning electrochemical microscopy (SECM). Potentiodynamic polarization results suggested that the inhibitor acted as a mixed type inhibitor by reducing both anodic and cathodic reactions. The adsorption of PM on the J55 and N80 steel surface obeyed the Langmuir adsorption isotherm. XRD, contact angle, SEM, AFM and SECM studies revealed that the surface of the metal was quite unaffected after the addition of inhibitor. Quantum chemical calculations and molecular dynamic simulation support the experimental results well.

Heterocyclic Corrosion Inhibitors for J55 Steel in a Sweet Corrosive Medium.

The inhibitory effect of two heterocyclic porphyrin compounds, specifically 5,10,15,20-tetrakis(pentafluorophenyl)-21H,23H-porphyrin palladium(II) (PF-1) and 4,4',4″,4‴-(porphyrin-5,10,15,20-tetrayl)tetrakis(benzoic acid) (PF-2), was studied in a sweet corrosion environment (3.5 wt % NaCl + CO2) on J55 steel by means of weight loss and electrochemical methods. Surface changes were studied using contact angle, scanning electrochemical microscopy (SECM), and atomic force microscopy (AFM) techniques. It was established that PF-2 showed the superlative inhibition efficiency of average of about 93% at 400 ppm concentration. The inductive behavior of the J55 steel surface in the presence of inhibitors was confirmed by SECM. The AFM further confirmed that the surface roughness was considerably decreased in the presence of porphyrins. The surface wettability of the steel was also investigated, and the results established the formation of a water-repellant layer on the surface when porphyrins are absorbed and layer became more hydrophobic with PF-2. Thermodynamics studies showed that the inhibition efficiencies of two compounds evaluated by all measurements follow the Langmuir adsorption isotherm.

Theoretical, thermodynamic and electrochemical analysis of biotin drug as an impending corrosion inhibitor for mild steel in 15% hydrochloric acid.

The corrosion mitigation efficiency of biotin drug for mild steel in 15% hydrochloric acid was thoroughly investigated by weight loss and electrochemical methods. The surface morphology was studied by the contact angle, scanning electrochemical microscopy, atomic force microscopy and scanning electron microscopy methods. Quantum chemical calculation and Fukui analysis were done to correlate the experimental and theoretical data. The influence of the concentration of inhibitor, immersion time, temperature, activation energy, enthalpy and entropy has been reported. The mitigation efficiency of biotin obtained by all methods was in good correlation with each other. Polarization studies revealed that biotin acted as a mixed inhibitor. The adsorption of biotin was found to obey the Langmuir adsorption isotherm. Surface studies showed the hydrophobic nature of the steel with inhibitor and vindicated the formation of a film on the metal surface that reduced the corrosion rate.

Cluster statistics and quasisoliton dynamics in microscopic optimal-velocity models.

Using the non-linear optimal velocity models as an example, we show that there exists an emergent intrinsic scale that characterizes the interaction strength between multiple clusters appearing in the solutions of such models. The interaction characterizes the dynamics of the localized quasisoliton structures given by the time derivative of the headways, and the intrinsic scale is analogous to the "charge" of the quasisolitons, leading to non-trivial cluster statistics from the random perturbations to the initial steady states of uniform headways. The cluster statistics depend both on the quasisoliton charge and the density of the traffic. The intrinsic scale is also related to an emergent quantity that gives the extremum headways in the cluster formation, as well as the coexistence curve separating the absolute stable phase from the metastable phase. The relationship is qualitatively universal for general optimal velocity models.

A Dynamic Health Assessment Approach for Shearer Based on Artificial Immune Algorithm.

In order to accurately identify the dynamic health of shearer, reducing operating trouble and production accident of shearer and improving coal production efficiency further, a dynamic health assessment approach for shearer based on artificial immune algorithm was proposed. The key technologies such as system framework, selecting the indicators for shearer dynamic health assessment, and health assessment model were provided, and the flowchart of the proposed approach was designed. A simulation example, with an accuracy of 96%, based on the collected data from industrial production scene was provided. Furthermore, the comparison demonstrated that the proposed method exhibited higher classification accuracy than the classifiers based on back propagation-neural network (BP-NN) and support vector machine (SVM) methods. Finally, the proposed approach was applied in an engineering problem of shearer dynamic health assessment. The industrial application results showed that the paper research achievements could be used combining with shearer automation control system in fully mechanized coal face. The simulation and the application results indicated that the proposed method was feasible and outperforming others.