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Kabuki syndrome (OMIM #147920 and 300867) is a rare genetic disorder characterized by a distinctive facial gestalt, intellectual disability and multiple congenital anomalies. We summarized the clinical features and molecular findings of the Kabuki syndrome (KS) patients diagnosed in Hong Kong between January 1991 and December 2019. There were 21 molecularly confirmed KS. Twenty of them were due to pathogenic KMT2D variants and one patient had KDM6A deletion. Nine KMT2D variants were novel. The clinical phenotype of our Chinese KS patients was largely comparable with that reported in patients of other ethnicities. This study expands the mutation spectrum but also provide important natural history information of Chinese KS in literature.

Authorities publish recommendations on the hepatitis B virus (HBV) viral load threshold to initiate antiviral treatment but the timing of quantification during pregnancy is not well defined. HBV DNA levels in pregnancy women at 28-30 weeks predict the risk of immunoprophylaxis failure. This study compared and evaluated the correlation between HBV DNA levels before 22 and 28-30 weeks' gestation. Clinical predictive factors for HBV DNA 6, 7 and 8 logA retrospective analysis of HBV DNA levels of women22 and 28-30 weeks of gestation was carried out in 352 pregnant HBV carriers. HBV DNA was examined using the COBAS TaqMan HBV Monitor Test coupled with the COBAS Ampliprep extraction system (Both Roche Diagnostics, Branchburg, NJ, USA).A strong positive correlation was found between the viral loads of women22 weeks (mean 16.7 weeks) and 28-30 weeks of gestation, which was independent of the viral load level and gestational age of quantification (r = 0.942, P 0.001). Univariate analysis showed that positive hepatitis B e antigen (HBeAg), maternal age35 years old and body mass index ≤21 kg/mHBV DNA quantification should be performed before 22 weeks of gestation. Viral load cut-offs similar to those at 28 weeks can be used to determine immunoprophylaxis failure at earlier gestation. Maternal positive HBeAg status was associated with a higher chance of viral load6, 7 or 8 log

ObjectiveOur study assessed the efficacy, safety, and biocompatibility of icodextrin (I) solution compared to glucose (G) solution as the daytime dwell in continuous cycling peritoneal dialysis (CCPD).DesignIn a randomized, open, prospective, parallel group study of two years’ duration, either I or G was used for the long daytime dwell in CCPD patients.MethodThe study was carried out in a university hospital and teaching hospital. Established CCPD patients and patients new to the modality were both included. Clinic visits were made at three-month intervals. In all patients, clinical data were gathered; ultrafiltration (UF) was recorded; and serum, urine, and dialysate samples and effluents were collected. Peritoneal defense characteristics and mesothelial markers were determined. Every six months, peritoneal kinetics studies were performed, and serum samples for icodextrin metabolites were taken.ResultsThirty-eight patients (19 G, 19 I) started the study. The median follow-up was 16 months and 17 months respectively (range: 0.5 – 26 months and 3 – 26 months, respectively). Daytime UF volumes increased significantly (p < 0.001), and 24-hour UF tended to increase from baseline in the I group. Dialysate creatinine clearance increased non significantly in both groups over time. In I patients, serum disaccharides (maltose) concentration increased from 0.05 ± 0.01 mg/mL [mean ± standard error of mean (SEM)] at baseline, to an average concentration in the follow-up visits of 1.15 ± 0.04 mg/mL (p < 0.001). At the same time, serum sodium levels decreased from 138.1 ± 0.7 mmol/L to an average concentration in the follow-up visits of 135.9 ± 0.8 mmol/L (p < 0.05). At 12 months, the serum sodium concentration increased to a non significant difference from baseline. Serum osmolality increased, but did not differ significantly from G users at any visit. During peritonitis (P), daytime dwell UF decreased significantly compared to non peritonitis (NP) episodes in G patients (p < 0.001), but remained stable in I patients. Total 24-hour UF also decreased in G patients (p < 0.001), but not in I patients. In these I patients, serum disaccharides increased from 0.05 ± 0.01 mg/mL to 1.26 ± 0.2 mg/mL during follow-up. During peritonitis, serum disaccharides concentration did not increase further (1.47 ± 0.2 mg/mL, p = 0.56). Thirty P episodes occurred during follow-up: 16 in G patients and 14 in I patients (1 per 17.6 months and 1 per 21.9 months, respectively). After one year, absolute number and percentage of effluent peritoneal macrophages (PMΦs) were significantly higher in I patients than in G patients. The difference in percentage persisted after two years. The phagocytic capacity of PMΦs decreased over time, resulting in a borderline significant difference for coagulase-negative staphylococci phagocytosis (p = 0.05) and a significant difference for E. coli phagocytosis (p < 0.05) in favor of I patients. PMΦ oxidative metabolism, PMΦ cytokine production, and effluent opsonic capacity remained stable over time with no difference between the groups. Mass transfer area coefficients (MTACs) and clearances were stable and appeared unaffected by G or I treatment. Effluent cancer antigen 125 (CA125) was stable in G users and tended to decrease in I users. Effluent interleukin-8 (IL-8), carboxy-terminal propeptide of type I procollagen (PICP), and amino-terminal propeptide of type III procollagen (PIIINP) did not change over time and did not differ between the groups.ConclusionsThe use of I for the long daytime dwell in CCPD led to an increase in total UF of at least 261 mL per day, which was maintained over at least 24 months. During I treatment, serum I metabolites increased significantly and serum sodium concentrations decreased initially. As a result, serum osmolality increased slightly. Clinical adverse effects did not accompany these findings. The UF gain in the I patients was even higher during P, without a further increase in serum I metabolites. CCPD patients using I did equally well as G-treated patients with regard to clinical infections and most peritoneal defense characteristics. However, in a few peritoneal defense tests, I-treated patients did better. Peritoneal transport variables did not change over time. Peritoneal membrane markers did not change throughout the study and did not differ between the groups.

Call Admission Control (CAC) has been accepted as a potential solution for supporting diverse, heterogeneous traffic sources demanding different Quality of Services (QOSs) in ATM networks. Also, CAC is required to consume a minimum of time and space to make call acceptance decisions. In this paper, we present an efficient neutral-network-based CAC (NNCAC) mechanism for ATM networks with heterogeneous arrivals. All heterogeneous traffic calls are initially categorized into various classes. Based on the number of calls in each class, NNCAC efficiently and accurately estimates the cell delay and cell loss ratio of each class in real time by means of a pre-trained neutral network. According to our decent study which exhibits the superiority of the employment of analysis-based training data over simulation-based data, we particularly construct the training data from a heterogeneous-arrival dual-class queueing model M^[^N^"^1^] + I^[^N^"^2^]/D/1/K, where M and I represent the Bernoulli and interrupted Bernoulli processes, and N"1 and N"2 represent the corresponding numbers of calls, respectively. Analytic results of the queueing model are confirmed by simulation results. Finally, we demonstrate the profound agreement of our neural-network-based estimated results with analytic results, justifying the viability of our NNCAC mechanism.

Multimedia communications often require intramedia synchronization for video data to prevent potential playout discontinuity resulting from network delay variation (jitter) while still achieving satisfactory playout throughput. In this paper, we propose a neural network (NN) based intravideo synchronization mechanism, called the intelligent video smoother (IVS), operating at the application layer of the receiving end system. The IVS is composed of an NN traffic predictor, an NN window determinator, and a window-based playout smoothing algorithm. The NN traffic predictor employs an on-line-trained back-propagation neural network (BPNN) to periodically predict the characteristics of traffic modeled by a generic interrupted Bernoulli process (IBP) over a future fixed time period. With the predicted traffic characteristics, the NN window determinator determines the corresponding optimal window by means of an off-line-trained BPNN in an effort to achieve a maximum of the playout quality (Q) value. The window-based playout smoothing algorithm then dynamically adopts various playout rates according to the window and the number of packets in the buffer. Finally, we show that via simulation results and live video scenes, compared to two other playout approaches, IVS achieves high-throughput and low-discontinuity playout under a mixture of IBP arrivals.

Given a design problem of production systems with multiple criteria and multiple levels of resource availability, we want to select the best subset from a set of possible products as the optimal production system for production and to construct the corresponding optimal contingency plans for coping with the changes of decision parameters. In this paper, by using the multi-criteria and multi-constraint-level (MC 2 ) simplex method, we develop a computer-aided system for identifying the optimal production systems and their corresponding optimal contingency plans for production.

This paper illustrates how an understanding of the concepts and issues associated with organizational and individual habitual domains can significantly improve the analysis of acquisition alternatives. Specifically, we stress the importance of a more comprehensive analysis of acquisitions, one that goes beyond an examination of just financial and economic issues and recognizes the importance of the human side of acquisitions. Consideration of the human aspect is important not only in pre-acquisition analysis but also in how the acquisition is to be eventually implemented. This paper emphasizes issues related to the habitual domains of the two organizations, the fit therein, and the potential costs associated with their assimilation. Based on the same, we develop a framework which can be used for a more comprehensive and effective analysis of acquisition opportunities.

The paper presents the design and experimentation of a high-performance optical packet-switched metro WDM ring network (HOPSMAN). Equipped with novel medium access control, HOPSMAN achieves superior bandwidth efficiency, access delay, fairness, and bursty traffic adaptation.

In this article, we generalize competence set analysis as an effective tool to model decision problems in an uncertain environment, especially in a fuzzy environment. We discuss the expansion of competence sets when only partially known.

According to the previous two chapters we know that each of us has a common procedure or process for our micro-behavior. Although we may vary the parameters in each function of the behavior mechanism and show uniqueness in our behavior, the common denominator of this behavior mechanism remains the same. From this common behavior mechanism, irrespective of the individual’s unique parameters, we could derive common tendencies in human behavior. These common tendencies have been observed and studied by many social psychologists (see [F5, Z4]). Although applicable to most people and to many situations, these common tendencies do reserve uniqueness for each individual. Throughout this chapter the reader is reminded that the common behavior tendencies described are valid only in general situations, not in all situations in the absolute sense.

In this chapter we will discuss the existence of life goals and their mechanism of ideal setting and evaluations. The mechanism leads to dynamic charge structures which not only dictate our attention allocation of time, but also command the action to be taken. This part of the behavior mechanism is related to how our mind works. We shall use four hypotheses in four sections to summarize the main concepts. At the end of this chapter, we also summarize the entire eight hypotheses and offer some interesting human behavior for the reader to integrate the behavior mechanism.

Ideal Habitual Domains We have used the concepts of habitual domains to discuss a number of problems that can occur in our lives. In abstract, each living thing is represented by an HD. It is natural to ask what could be an ideal HD for life. This is a complex philosophic problem. As our HDs evolve with our own unique experience and learning, each one of us must have our own unique ideal HD, which itself may also evolve with time. The reader may want to pause to think what is his/her ideal HD for life.

Human behaviors are undoubtedly dynamic, evolving, interactive and adaptive processes. These complex processes have a common denominator resulting from a common behavior mechanism. The mechanism depicts what triggers a specific behavior and illustrates how it works.

Recall from Section 7.1, that for each decision problem E, there is a perceived competence set HD*(E), a collection of ideas, knowledge and skills for its effective solution. When the decision maker believes that he/she has already acquired and mastered HD*(E), he/she would feel comfortable and confident about making a decision. Otherwise, he/she would hesitate to make a decision, especially when it involves high stakes. The perception, acquisition and mastering of HD*(E) thus play important roles in determining how fast and how effective a decision is made and executed. These topics and their applications will be the focus of study in this chapter. In particular, we shall discuss decision cycles in Section 8.1; core of habitual domains in Section 8.2; learning processes in Section 8.3; classes of decision problems in Section 8.4; decision quality, confidence, risk taking and ignorance in Section 8.5; effective decision making in Section 8.6; and decision assistance in Section 8.7. In the appendix (Section 8.8), decision situations and competence sets are further explored.

As discussed in Chapter 5, each one of us has a unique habitual domain (HD). Like snails carrying their shell wherever they go, we carry our HD wherever we go. As the HD is invisible, unwritten, unspoken, but always present, it affects our decisions and behavior continuously yet unconsciously.

Understanding Games, Cooperation and Conflict As discussed in Chapter 6, each human, in addition to his/her visible physiological body, carries an invisible habitual domain (HD). Like the shells of snails, our HD goes wherever we go, and has great impact on our thoughts, judgments, behavior and decision making.

All living things come to life to perform. Some are colorful and fulfilling; others are not.

We shall in this and in subsequent chapters discuss the concepts of habitual domains. In this chapter we focus on a general introduction (Section 5.1), formation (Section 5.2), decomposition (Section 5.3), properties (Section 5.4) and expansion (Section 5.5) of habitual domains. In the next chapter we shall discuss methods for effective expansion and interactions of habitual domains. A summary of habitual domains is provided in Section 6.6. Chapter 10 describes dimensions and methods for assessing habitual domains.

In this chapter we shall discuss five topics related to the expansion and interaction of habitual domains. Section 6.1 focuses on general methods for expanding our HDs, Section 6.2 describes ideas and operators that can catch our attention, Section 6.3 describes arriving ideas and operators that are hard to catch our attention and be accepted, Section 6.4 looks at proper attitudes in the interaction of HDs and Section 6.5 treats expansion of HDs as a learning process. Finally, Section 6.6 provides a summary on what we have discussed on HDs.

Why are some hunters not afraid of lions or tigers? Probably because they think they have the ability to act quickly and effectively to protect themselves.

In this chapter we shall focus on (i) restructuring games so that each player may claim a victory (Section 12.1); (ii) useful observations from the behavior mechanism for understanding and solving nontrivial game problems (Section 12.2); (iii) construction of conflict maps and perspectives to help us understand the nontrivial games more thoroughly (Section 12.3); and (iv) forming winning strategies for nontrivial games including making people like us, making suggestions effectively, bargaining and negotiation, and direct conflict and wars (Section 12.4).