Wilson's disease: an update.

This study focuses on the AC/DC hybrid distribution system (HDS) where massive dispatchable resources form community microgrids (CMs), exhibiting distinct power consumption characteristics and offering significant potential for collaborative optimization. However, due to market-oriented operations, CMs are managed by different operators, requiring a hierarchical distributed energy management method. To address this, a model that classifies different CMs, is developed, considering diverse power load characteristics, to enhance collaboration and complementarity in the HDS. A cloud-edge collaborative architecture is proposed to enable hierarchical distributed energy management and relieve the pressure of computation-intensive tasks through task assignment between cloud and edge layers. Furthermore, a three-stage management framework is presented, which divides the operation of the dispatchable resources into different time scales to achieve optimal performance. Study cases show that the CMs classification model enhances resource complementarity within the HDS, while the cloud-edge architecture efficiently utilizes computing resources. The proposed framework enables hierarchical distributed optimal management of the dispatchable resources. 

Hierarchical and distributed energy management framework for AC/DC hybrid distribution systems with massive dispatchable resources

Big data has been advocated as a dominant driving force to unleash the great waves of the next-generation industrial revolution. While the ever-increasing proliferation of heterogeneous data contributes to a more sustainable energy system, considerable challenges remain for breaking down the barrier of data sharing across monopolistic sectors and fully exploiting data asset value in a trustworthy environment. Here, we focus on a global aspiration and interest regarding the challenges, techniques, and prospects of data sharing in energy systems. In this paper, a conceptual framework for data sharing is designed, in which we introduce the commodity attribute of data assets and explain the bottlenecks of data trading. Two critical issues, i.e., right confirmation and privacy protection, are then systematically reviewed, which provide a fundamental guarantee for credible data openness. A detailed data market is conceived by elaborating on market bids, data asset valuation and pricing strategy, and game-based clearing. Finally, we conduct a discussion about some low-hanging fruit of data sharing in energy systems. 

Data Sharing in Energy Systems

Virtual power plants (VPPs) have become an important technological means for large-scale distributed energy resources to participate in the operation of power systems and electricity markets. However, the operation of VPPs is challenged by stochastic resource characteristics, complex control features, heterogeneous information structures, and strategic game behaviors among stakeholders. To clarify the key problems and solutions to these challenges, this article describes the resource coordination problems and multidimensional interaction mechanism, and it elaborates the overall decision-making process of VPPs. It also discusses different specific operational stages that VPPs should attach importance to from three separate perspectives: energy, information and the market. From each perspective, every section first analyzes the motivation of decision-making, then analyzes the complexity of the problem models, and summarizes the different modeling methods and solving techniques, thus completing a comprehensive review of VPP operation. Furthermore, the article adopts an interdisciplinary approach, utilizing a literature review and technical statistics to capture the multifaceted contributions of decision-making to VPP operations. It delves into the evolving trends of decision-making technology, analyzed from the coupling cyber-physical-social perspective. Finally, the future trajectory of research issues is deliberated. 

Review of virtual power plant operations: Resource coordination and multidimensional interaction

Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper‐transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of patients with WD. Synonymous single‐nucleotide sequence variants have been recognized as pathogenic in individual families. The aim of the present study was to evaluate the prevalence and disease mechanism of the synonymous variant c.2292C>T (p.Phe764=) in WD. A cohort of 280 patients with WD heterozygous for a single ATP7B variant was investigated for the presence of c.2292C>T (p.Phe764=). In this cohort of otherwise genetically unexplained WD, the allele frequency of c.2292C>T (p.Phe764=) was 2.5% (14 of 560) compared to 7.1 × 10−6 in the general population (2 of 280,964 in the Genome Aggregation Database; p < 10−5; Fisher exact test). In an independent United Kingdom (UK) cohort, 2 patients with WD homozygous for p.Phe764= were identified. RNA analysis of ATP7B transcripts from patients homozygous or heterozygous for c.2292C>T and control fibroblasts showed that this variant caused high expression of an ATP7B transcript variant lacking exon 8. Conclusion: The synonymous ATP7B variant c.2292C>T (p.Phe764=) causes abnormal messenger RNA processing of ATP7B transcripts and is associated with WD in compound heterozygotes and homozygotes.

/pdf/synonymous-mutation-in-adenosine-triphosphatase-copper-2675qbdu.pdf

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

This paper is concerned with the privacy-preserving distributed economic dispatch problem (ED) of microgrids. A homomorphically encrypted consensus algorithm is developed in the absence of a third party to achieve optimal power distribution with the least cost while preventing sensitive information leakage during the entire communication process. For ease of data encryption, a novel estimator-like dynamic quantizer is first constructed, where the information to be transmitted is converted into a series of finite-level codewords. Then, a sufficient condition is derived, taking advantage of mathematical induction and the properties of matrix norms, to ensure that the quantization output is unsaturated and exact consensus is reached. Furthermore, by means of the additive homomorphic property of the Paillier algorithm to embed secrecy in pairwise interaction dynamics, the confidential communication strategy is adopted to ensure that the distributed algorithm converges to the optimal value without disclosing private or sensitive state information of agents. Finally, case studies are provided to illustrate the feasibility and validity of the adopted privacy-preserving ED scheme in IEEE 39-bus power systems.

Privacy-Preserving Distributed Economic Dispatch of Microgrids: A Dynamic Quantization-Based Consensus Scheme With Homomorphic Encryption

Wilson disease (WD) is a rare autosomal recessive genetic disorder that causes abnormal copper metabolism, resulting in pathological accumulation of copper in the liver, brain and other organs. Mutations in the ATPase copper transporter 7B (ATP7B) gene, which encodes a membrane P‑type adenosine triphosphatase, have been identified as being responsible for WD. The present study analyzed clinical data and collected DNA samples from a pediatric patient with WD and her healthy parents. Mutation screening for ATP7B was performed using direct sequencing, multiplex ligation‑dependent probe amplification(MLPA), next‑generation sequencing (NGS) and Sanger sequencing of the breakpoint junction sequence. The patient (age, 2.7 years) presented with early‑onset hepatic disease. The present study identified compound heterozygous mutations of ATP7B, including a heterozygous mutation (p.Arg1,041Trp) and a novel heterozygous gross deletion of a 57,771 bp fragment (chr13: 52490972‑52548742) (GRCh37) from partial exon2‑ exon21 to external ATP7B sequence (15.833bp) in the patient. Analysis of the family members of the patient showed that the missense mutation and the gross deletion mutation were inherited from her mother and father, respectively. Microhomology and inverted repeat sequences, which may mediate the deletion mutation, were identified through sequence analysis on both sides of the breakpoints of this deletion. The present study provided additional information on the genotypic spectrum of the ATP7B gene, particularly with regard to early onset hepatic disease, as observed in the present patient with WD. The identification of the precise breakpoint junction sequence warrants further investigation of DNA break and recombination mechanisms. In detecting precise deletions, the NGS associated with Sanger sequencing of breakpoint junction sequence have been found to have more advantages than MLPA.

/pdf/a-novel-gross-deletion-and-breakpoint-junction-sequence-2g6tz2f8ty.pdf

A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing

This article focuses on the mean-square consensus control problem for a class of discrete-time multiagent systems (DT-MASs) over time-correlated multistate Markovian fading channels, where the packet loss probability is time-varying and depends on the current channel state. In order to save limited network bandwidth, a compressed coding scheme is developed by preprocessing the measurement output. With the aid of a stochastic Lyapunov–Krasovskii functional, a sufficient condition is first obtained under which the consensus error system is mean-square stable for DT-MASs over identical fading channels. Then, the consensus gain is formulated as the feasible solution to a set of linear matrix inequalities (LMIs) whose dimensions are independent of the number of agents. Furthermore, for the case that agents communicate over nonidentical fading channels, the mean-square consensus problem is transformed into an analyzable edge agreement issue in the mean-square sense by means of properties of the edge Laplacian combined with a mapping technique. Next, a sufficient condition is derived to ensure the mean-square consensus performance, based on which the existence of the controller can be guaranteed by the feasibility of a set of LMIs. Finally, the validity and feasibility of the developed design scheme are shown by two illustrative examples. 

Consensus Control of Discrete-Time Multiagent Systems Over Correlated Fading Channels: A Compressed Coding Scheme

A 1-year-old girl was admitted to our hospital because of the deposition of sludge and sand particles in the intrahepatic biliary cyst. Prenatal ultrasound had revealed an abdominal cyst at 28 weeks’ gestation. After birth, the cyst located near porta hepatis measuring 1.9 1.0 1.6 cm was confirmed as intrahepatic biliary cyst with no sludge or stones by abdominal ultrasonography. The patient was asymptomatic, and a decision was made to monitor the cyst with serial ultrasound and close follow-up. At 12-monthold follow-up, she was still asymptomatic. Ultrasonography showed that the cyst had not changed in size but contained sludge and sand particles. Her aspartate transaminase (AST, 49.8 U/L (5–40 U/L)) and alkaline phosphatase (ALP, 412 U/L (5–350 U/L)) minimally elevated. Therefore, magnetic resonance cholangiopancreatography (MRCP) was performed. MRCP showed an irregularly shaped cystic lesion at the hepatic porta possibly in communication with right or left hepatic duct (Fig. 1). The patient was taken up for surgery with a preoperative diagnosis of choledochal cyst (Todani Type V). At the time of laparotomic exploration, the gallbladder was mobilized to separate it from the intrahepatic biliary cyst (Fig. 2). Intraoperative cholangiogram demonstrated a solitary intrahepatic biliary cyst in communication with small intrahepatic bile ducts of right lobe and right hepatic duct (Fig. 3). The cyst wall was opened, and the bile and black pigment stones were identified in the cyst. Then a cholecystectomy, partial excision of cyst and wide Roux-en-Y hepaticojejunostomy to residual intrahepatic moiety were performed. The patient had an uneventful postoperative course. No intrahepatic cyst or bile duct dilation was detected by serial ultrasonography at follow-up. Congenital solitary intrahepatic biliary cyst is a rare biliary disease characterized by single intrahepatic bile-containing cyst with communication to bile tree, usually detected by prenatal ultrasound. MRCP and hepatobiliary iminodiacetic acid (HIDA) scan are

Congenital solitary intrahepatic biliary cyst

A 13-year-old boy had 2 years history of intermittent abdominal pain. His abdominal pain has no obvious inducement, paroxysmal attacking. There was no relief from changing body position. The symptom improved after acid suppression treatment, but it still continued to attack. The boy did not have previous history of peptic ulcer. Ultrasound found that there was an abnormal channel between the stomach and duodenal bulb, which had the structure of digestive tract wall. Upper gastrointestinal angiography showed that there was a sinus tract communication between the lesser curvature of the stomach and the duodenal bulb (Fig. 1c). The contrast medium entered the duodenum through the sinus tract and pyloric canal at the same time. The abnormal channel can also be seen on enhanced CT (Fig. 2d). Gastroscopy revealed that an abnormal opening with a diameter of about 1 cm could be seen near the gastric horn on the lesser curvature side of the lower gastric body (Fig. 2a). Another abnormal opening can be seen in the duodenal bulb, which was connected with the one of the gastric body (Fig. 2b,c). Laparoscopy was performed, and a tubular channel with a diameter of about 1 cm was found between the lesser curvature of the

Abnormal channel between the stomach and the duodenal bulb

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