BGAT-CCRF: A novel end-to-end model for knowledge graph noise correction.

Knowledge graph (KG) noise correction aims to select suitable candidates to correct the noises in KGs. Most of the existing studies have limited performance in repairing the noisy triple that contains more than one incorrect entity or relation, which significantly constrains their implementation in real-world KGs. To overcome this challenge, we propose a novel end-to-end model (BGAT-CCRF) that achieves better noise correction results.

Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review.

Background: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and life-threatening autoimmune disease of the central nervous system. So far, only ten cases of PERM have been reported in children worldwide, including the one in this study.

Case Presentation: We report a case of an 11-year-old boy with PERM with an initial presentation of abdominal pain, skin itching, dysuria, urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleep, deep and peripheral sensory disturbances, and dysphagia.

Fully Unsupervised Deepfake Video Detection Via Enhanced Contrastive Learning.

Nowadays, Deepfake videos are widely spread over the Internet, which severely impairs the public trustworthiness and social security. Although more and more reliable detectors have recently sprung up for resisting against that new-emerging tampering technique, some challengeable issues still need to be addressed, such that most of Deepfake video detectors under the framework of the supervised mechanism require a large scale of samples with accurate labels for training. When the amount of the training samples with the true labels are not enough or the training data are maliciously poisoned by adversaries, the supervised classifier is probably not reliable for detection.

High-accuracy model recognition method of mobile device based on weighted feature similarity.

Accurately model recognition of mobile device is of great significance for identifying copycat device and protecting intellectual property rights. Although existing methods have realized high-accuracy recognition about device's category and brand, the accuracy of model recognition still needs to be improved. For that, we propose Recognizer, a high-accuracy model recognition method of mobile device based on weighted feature similarity.

A delay deviation tolerance IP geolocation method with error estimation.

IP geolocation is an important basis of location-based network services, while error estimation is an important basis for judging the reliability of results. Most of the existing IP geolocation algorithms cannot estimate the geolocation error. A few can achieve error estimation through high-precision delay measurement, but their performance is also affected by the common delay inflation in the actual network.

[Identification of a novel nonsense IQSEC2 variant in a child with X-linked intellectual disability].

Objective: To explore the genetic basis for a child featuring X-linked intellectual disability.

Methods: The 1-year-and-6-month-old child presented with growth retardation, intellectual disability and bilateral alternating squint. With DNA extracted from the child and his parents' peripheral venous blood samples, whole exome sequencing was carried out to identify potential variants that can explain his condition.

[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].

Objective: To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD).

Methods: The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.

Dynamic Autonomous Cross Consortium Chain Mechanism in e-Healthcare.

Safe and scalable dynamic autonomous data interaction between medical institutions can increase the number of clinical trial records, which is of great significance for improving the level of medical trial collaboration, especially for clinical decision-making with regard to rare diseases. Through a preset authorization access and consensus mechanism, consortium chain provides integrity and traceability management for medical clinical data. However, how to enable users have ownership of their own medical data and share their medical data safely and dynamically between different medical institutions remains an area of particular concern.

Access Control Based on Ciphertext Attribute Authentication and Threshold Policy for the Internet of Things.

The development of the Internet of Things has led to great development of data sharing and data interaction, which has made security and privacy more and more a concern for users. How to ensure the safe sharing of data, avoid the leakage of sensitive information, and protect the privacy of users is a serious challenge. Access control is an important issue to ensure the trust of the Internet of Things.

[Analysis of PMM2 gene variant in an infant with congenital disorders of glycosylation type 1a].

Objective: To identify potential mutation of PMM2 gene in an infant with congenital disorders of glycosylation type 1a (CDG-1a).

Methods: Genomic DNA was extracted from peripheral blood sample of the patient. All coding exons (exons 1-8) and splicing sites of the PMM2 gene were amplified with PCR.

Interleukin-10 inhibits interleukin-1β production and inflammasome activation of microglia in epileptic seizures.

Background: Microglia are important for secreting chemical mediators of inflammatory responses in the central nervous system. Interleukin (IL)-10 and IL-1β secreted by glial cells support neuronal functions, but the related mechanisms remain vague. Our goal was to demonstrate the efficacy of IL-10 in suppressing IL-1β and in inflammasome activation in mice with epileptic seizure based on an epileptic-seizure mouse model.

Sensitivity of supplementation of thyroid hormone on treatment of idiopathic short-stature children during therapy with recombinant human growth hormone.

This study aimed to evaluate the effects of thyroid hormone supplementation on growth rate of children with idiopathic short stature (ISS) and low-normal serum free thyroxine FT4 who were receiving growth hormone therapy. We selected 64 prepubertal children with FT4 levels in the lowest third of the normal range as the lower FT4 group, and these children were divided randomly into two subgroups: L-thyroxine (L-T4)-treated subgroup was treated with L-T4 (0.5-3.

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.

Background: Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing congenital heart defect.

[MECP2 duplication syndrome: a clinical analysis of three cases and literature review].

MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation.

[Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].

Objective: To investigate the association between genotype and phenotype of microdeletion and microduplication syndromes (MMSs) and the pathogenesis of pathogenic copy number variations (CNVs).

Methods: A total of 50 children with MMSs diagnosed by chromosomal microarray analysis (CMA) from June 2013 to September 2015 were enrolled, and the clinical manifestations and features of pathogenic CNVs were analyzed.

Results: The main clinical manifestations of children with MMSs included mental retardation, developmental delay, short stature, and unusual facies, with the presence of abnormalities in multiple systems.

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

Background: Interstitial duplications distal to 15q13 are very rare.

Case Presentation: Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips.

Establishment of NOD/SCID mouse model of central nervous system leukemia.

In the present study, we successfully established a NOD/SCID mouse model of central nervous system leukemia by injection of acute monocytic leukemia cell line SHI-1 cells into the lateral ventricle. Immunohistochemistry was used to detect human leukocyte common antigen in brain slices. Nested PCR assay was used to detect MLL/AF6 fusion gene expression.

Merosin-deficient congenital muscular dystrophy type 1A: A case report.

The aim of this study was to characterize the clinical and genetic features of a 4-year-old female with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22-23.

Downregulation of miR-383 promotes glioma cell invasion by targeting insulin-like growth factor 1 receptor.

Invasiveness is a major clinical feature of glioma, an aggressive brain tumor with poor prognosis. Although there is emerging evidence that some microRNAs are involved in the glioma cell invasion process, it remains necessary to find functional microRNAs and elucidate the underlying molecular mechanisms. Here, we reported that a microRNA, miR-383, was downregulated in gliomas and inversely correlated with glioma pathological grades.

Prospective, naturalistic study of open-label OROS methylphenidate treatment in Chinese school-aged children with attention-deficit/hyperactivity disorder.

Background: Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders during childhood, characterized by the core symptoms of hyperactivity, impulsivity and inattention and puts great burden on children themselves, their families and the society. Osmotic release oral system methylphenidate (OROS-MPH) is a once-daily controlled-release formulation developed to overcome some of the limitations associated with immediate-release methylphenidate (IR-MPH). It has been marketed in China since 2005 but still lacks data from large-sample clinical trials on efficacy and safety profiles.

Effect of intravenous immunoglobulin treatment on brain interferon-gamma and interleukin-6 levels in a rat kindling model.

Many studies indicate that intravenous immunoglobulin (IgG) therapy may decrease symptoms of epilepsy. In this study, we assessed the effects of intravenous IgG in an experimental rat kindling model and attempted to elucidate the underlying mechanism of the IgG effect. For induction of kindling, Wistar rats received repeated intraperitoneal injections of picrotoxin.