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With the development and application of next-generation sequencing technology, the aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive. Additionally, there is a growing body of research into precision therapy based on genetic diagnosis. The numerous genes in the potassium ion channel family constitute the largest family of ion channels: this family is divided into different subtypes. Potassium ion channels play a crucial role in the electrical activity of neurons and are directly involved in the mechanism of epileptic seizures. In China, scientific research on genetic diagnosis and studies of precision therapy for genetic epilepsy are progressing rapidly. Many cases of epilepsy caused by mutation of potassium channel genes have been identified, and several potassium channel gene targets and drug candidates have been discovered. The purpose of this review is to briefly summarize the progress of research on the precise diagnosis and treatment of potassium ion channel-related genetic epilepsy, especially the research conducted in China. Here in, we review several large cohort studies on the genetic diagnosis of epilepsy in China in recent years, summarized the proportion of potassium channel genes. We focus on the progress of precison therapy on some hot epilepsy related potassium channel genes: KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNQ2, KCNQ3, KCNMA1, and KCNT1.
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Epilepsia , Canais de Potássio , Humanos , Canais de Potássio/genética , Canal de Potássio KCNQ3/genética , Canal de Potássio KCNQ2/genética , Epilepsia/diagnóstico , Epilepsia/genética , Mutação/genética , Canais de Potássio Shaw/genética , Canais de Potássio Ativados por Sódio/genética , Proteínas do Tecido Nervoso/genéticaRESUMO
OBJECTIVE: To study the clinicopathological features of children with lupus nephritis (LN) with positive anti-neutrophil cytoplasmic antibody (ANCA). METHODS: A retrospective analysis was performed for the children who were diagnosed with LN in the First Affiliated Hospital of Sun Yat-sen University from January 2003 to December 2019. According to the results of serum ANCA, they were divided into two groups: ANCA-positive group (n=59) and ANCAnegative group (n=454). The two groups were compared in terms of clinical manifestations, histopathological features, remission rate, and prognosis. RESULTS: Compared with the ANCA-negative group, the ANCA-positive group had a significant reduction in leukocytes and a significant increase in erythrocyte sedimentation rate (P < 0.05). There were no significant differences between the two groups in serum creatinine, urine protein, and urine red blood cell count (P > 0.05). A total of 308 children underwent kidney biopsy. The results on light microscopy showed that compared with the ANCAnegative group, the ANCA-positive group had a significantly higher proportion of children with cellular fibrous crescents (P < 0.05) and a significantly lower proportion of children with immune complex deposition (P < 0.05). There were no significant differences between the two groups in the remission rate and survival rate (P > 0.05). CONCLUSIONS: Children with ANCA-positive LN tend to have more severe renal pathological injury, which is not exactly parallel with clinical manifestations, suggesting that timely renal biopsy is of great importance.
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Anticorpos Anticitoplasma de Neutrófilos , Nefrite Lúpica , Criança , Creatinina , Humanos , Rim , Estudos RetrospectivosRESUMO
Due to the latest progress in image sensor manufacturing technology, the emergence of a sensor equipped with an RGGB Bayer filter and a directional polarizing filter has brought significant advantages to computer vision tasks where RGB and polarization information is required. In this regard, joint chromatic and polarimetric image demosaicing is indispensable. However, as a new type of array pattern, there is no dedicated method for this challenging task. In this Letter, we collect, to the best of our knowledge, the first chromatic-polarization dataset and propose a chromatic-polarization demosaicing network (CPDNet) to address this joint chromatic and polarimetric image demosaicing issue. The proposed CPDNet is composed of the residual block and the multi-task structure with the costumed loss function. The experimental results show that our proposed methods are capable of faithfully recovering full 12-channel chromatic and polarimetric information for each pixel from a single mosaic image in terms of quantitative measures and visual quality.
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Since specular reflection often exists in the real captured images and causes deviation between the recorded color and intrinsic color, specular reflection separation can bring advantages to multiple applications that require consistent object surface appearance. However, due to the color of an object is significantly influenced by the color of the illumination, the existing researches still suffer from the near-duplicate challenge, that is, the separation becomes unstable when the illumination color is close to the surface color. In this paper, we derive a polarization guided model to incorporate the polarization information into a designed iteration optimization separation strategy to separate the specular reflection. Based on the analysis of polarization, we propose a polarization guided model to generate a polarization chromaticity image, which is able to reveal the geometrical profile of the input image in complex scenarios, e.g., diversity of illumination. The polarization chromaticity image can accurately cluster the pixels with similar diffuse color. We further use the specular separation of all these clusters as an implicit prior to ensure that the diffuse component will not be mistakenly separated as the specular component. With the polarization guided model, we reformulate the specular reflection separation into a unified optimization function which can be solved by the ADMM strategy. The specular reflection will be detected and separated jointly by RGB and polarimetric information. Both qualitative and quantitative experimental results have shown that our method can faithfully separate the specular reflection, especially in some challenging scenarios.
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The emergence of the single-chip polarized color sensor now allows for simultaneously capturing chromatic and polarimetric information of the scene on a monochromatic image plane. However, unlike the usual camera with an embedded demosaicing method, the latest polarized color camera is not delivered with an in-built demosaicing tool. For demosaicing, the users have to down-sample the captured images or to use traditional interpolation techniques. Neither of them can perform well since the polarization and color are interdependent. Therefore, joint chromatic and polarimetric demosaicing is the key to obtaining high-quality polarized color images. In this paper, we propose a joint chromatic and polarimetric demosaicing model to address this challenging problem. Instead of mechanically demosaicing for the multi-channel polarized color image, we further present a sparse representation-based optimization strategy that utilizes chromatic information and polarimetric information to jointly optimize the model. To avoid the interaction between color and polarization during demosaicing, we separately construct the corresponding dictionaries. We also build an optical data acquisition system to collect a dataset, which contains various sources of polarization, such as illumination, reflectance and birefringence. Results of both qualitative and quantitative experiments have shown that our method is capable of faithfully recovering full RGB information of four polarization angles for each pixel from a single mosaic input image. Moreover, the proposed method can perform well not only on the synthetic data but the real captured data.
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INTRODUCTION: Secondary steroid-resistant nephrotic syndrome (SRNS) refers to the condition when patients with initial steroid-sensitive nephrotic syndrome develop steroid resistance in subsequent relapses. Long-term outcomes of secondary SRNS in children are uncertain. METHODS: This was a single-center retrospective study of 56 children with secondary SRNS between 2006 and 2016. The survival curve was estimated using the Kaplan-Meier method. Independent risk factors for end-stage renal disease (ESRD) were determined using Cox proportional hazards model. RESULTS: The median time from nephrotic syndrome onset to secondary SRNS was 7.8 months. Biopsy results at diagnosis secondary SRNS showed that 64.3% of cases were minimal change disease (MCD). No remission was observed in seven (12.5%) patients within the first year. The mean follow-up time was 7.8 ± 3.2 years. Eight patients were clinically cured, one died before ESRD, 10 reached ESRD, and 75.0% (3 of 4) of patients recurred post-transplantation. The 10-year ESRD-free survival rate was 85.8%. No response to intensified immunosuppression (IIS) in the first year was the independent predictor for ESRD. Repeat biopsies were performed in 20 cases, revealing that the reclassification from MCD to mesangial hypercellularity and focal segmental glomerulosclerosis (FSGS) in two when secondary steroid resistance appeared, from MCD and mesangial hypercellularity to FSGS in seven who developed multidrug resistance, and from FSGS to MCD and mesangial hypercellularity in two with favorable outcomes. CONCLUSIONS: The long-term outcome in children with secondary SRNS was heterogeneous, and no response to IIS in the first year was the independent predictor for ESRD. In patients with repeat biopsy, changes in histological appearance to FSGS were associated with multidrug resistance.
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OBJECTIVES: To observe the induction efficacy of mycophenolate mofetil and cyclophosphamide under different complete remission (CR) criteria in children with proliferative lupus nephritis, and to further explore the factors influencing the judgment of remission. METHODS: From 2003 to 2019, children who diagnosed proliferative lupus nephritis underwent induction therapy of MMF or CYC in three hospitals were consecutively collected. Based on this population, we compared CR rates between two groups under six CR criteria selected from related recommendations and clinical trials. Then degrees and impact factors of disagreement among CR rates evaluated by selected criteria would be analyzed by Kappa test and multivariable logistic-regression models. RESULTS: A total of 161 children were included in this study, 27 patients received induction therapy of mycophenolate mofetil (MMF) and 134 patients recieved cyclophosphamide (CYC). Under different CR criteria, CR rates in MMF group fluctuated between 18.5%-74.1% and that in CYC group ranged from 16.4%-73.9%. Moreover, comparison between the two drugs in induction treatment under different criteria showed an opposite trend in efficacy. The results of six criteria were inconsistent, with pair-to-pair Kappa values ranging from 0.118 to 0.858. The most important factors leading to disagreement in judgment were urinary protein and urinary red blood cells. CONCLUSIONS: The definition of complete response, especially the factors of the urinary protein and urinary red blood cells, significantly impacts the clinical judgment of children with lupus nephritis.
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The WT1 variant is confirmed to be pathogenic for Denys-Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with atypical hemolytic uremic syndrome (aHUS) have been reported. Here we report the case of a 2-year-old child who was diagnosed with WT1 missense variant, associated with DDS and initial presentation of aHUS. Complement factor H autoantibodies were negative. Complement regulatory system-related gene variants were not found, but a de novo heterozygous c.754G>A missense variant in exon 9 of WT1 gene was detected, resulting in a p. Asp252Asn substitution, by next-generation sequencing. The patient was a female morphologically but proved to be a genetic male because of karyotype 46, XY with normally developed female external genitalia. Bilateral nephrectomy and renal transplantation were performed 1 year later, and there was no recurrence of aHUS at 10 months after transplantation.
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The presence of complex matrix in the aquatic system affects the environmental behavior of hydrophobic organic compounds (HOCs). In the current study, an automated solid-phase microextraction (SPME) desorption method was employed to study the effect of 2-hydroxypropyl-ß-cyclodextrin (ß-HPCD) on the kinetic process of 5 selected polyaromatic hydrocarbons (PAHs) desorbing from the fiber in aqueous sample. The results showed that the added ß-HPCD facilitated the desorption rates of PAHs from SPME fiber coating, and the enhancement effect can be predicted by a proposed theoretical model. Based on this model, the kinetic parameters of organic compounds desorbing from the SPME fiber can be determined, and the calculated results showed good agreement with the experimental data. In addition, the effect of temperature on the desorption kinetic was investigated. The results found that the SPME desorption time constant increased as the sampling temperature elevated, and followed the Arrhenius equation. Also, the temperature facilitated the desorption of HOCs from the bound matrix so that increased the lability degrees of the bound compounds. Finally, a calibration method based on the proposed theoretical model was developed and applied for the analysis of unknown sample.
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Microextração em Fase Sólida/métodos , Cinética , TemperaturaRESUMO
A fully automated solid phase microextraction (SPME) depletion method was developed to study the partition coefficient of organic compound between complex matrix and water sample. The SPME depletion process was conducted by pre-loading the fiber with a specific amount of organic compounds from a proposed standard gas generation vial, and then desorbing the fiber into the targeted samples. Based on the proposed method, the partition coefficients (Kmatrix) of 4 polyaromatic hydrocarbons (PAHs) between humic acid (HA)/hydroxypropyl-ß-cyclodextrin (ß-HPCD) and aqueous sample were determined. The results showed that the logKmatrix of 4 PAHs with HA and ß-HPCD ranged from 3.19 to 4.08, and 2.45 to 3.15, respectively. In addition, the logKmatrix values decreased about 0.12-0.27 log units for different PAHs for every 10°C increase in temperature. The effect of temperature on the partition coefficient followed van't Hoff plot, and the partition coefficient at any temperature can be predicted based on the plot. Furthermore, the proposed method was applied for the real biological fluid analysis. The partition coefficients of 6 PAHs between the complex matrices in the fetal bovine serum and water were determined, and compared to ones obtained from SPME extraction method. The result demonstrated that the proposed method can be applied to determine the sorption coefficients of hydrophobic compounds between complex matrix and water in a variety of samples.