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. A tissue-based assay using peripheral blood was positive, demonstrated by fluorescent staining of mouse cerebellar sections. He showed gradual and persistent clinical improvement after immunotherapy with intravenous immunoglobulin, steroids, plasmapheresis and rituximab. CONCLUSIONS: We summarized the diagnosis and treatment of a patient with PERM and performed a literature review of pediatric PERM to raise awareness among pediatric neurologists. A better comprehension of this disease is required to improve its early diagnosis, treatment, and prognosis.

[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. Physical examination showed hypotonia and negative pathological signs in each case. Case 1 had tonic-clonic seizures and electroencephalography showed focal seizures, for which he was given oxcarbazepine, levetiracetam, and clonazepam as the antiepileptic treatment to control seizures. Case 3 experienced one absence seizure and three head-nodding seizures with normal electroencephalographic findings during these seizures, and therefore, he was not given antiepileptic treatment. In each case, recurrent infection was improved with the increase in age, but there were no significant improvements in language or intelligence. Array-based comparative genomic hybridization (aCGH) showed MECP2 duplication in X chromosome in each case, and so they were diagnosed with MDS. MDS should be considered for children with delayed development complicated by recurrent infection and epileptic seizures, and early aCGH helps with the diagnosis of this disease.

[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. There were 54 pathogenic CNVs in total, consisting of 36 microdeletion segments and 18 microduplication segments, with sizes ranging from 28 kb to 48.5 Mb (mean 13.86 Mb). Pathogenic CNVs often occurred in chromosomes X, 15, and 1. CONCLUSIONS: The clinical manifestations of MMSs are not specific, and a genotype-first approach can be used for diagnosis. Mode of inheritance, type of recombination (deletion or duplication), size of segment, and functional genes included helps with the interpretation of CNVs of de novo mutations, and in-depth research on rare pathogenesis may become breakthrough points for the identification of new MMSs.

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. To achieve dynamic communication between medical consortium chains, this paper proposes (i) a cross-chain communication mechanism by simplifying the heterogeneous node communication topology and (ii) the construction rules of the node identity credibility path-proof to carry out dynamic construction and verification of the path-proof for cross-chain transactions. In addition, the consensus of the cross-chain transaction is modeled as a threshold digital signature process with multiple privileged subgroups; thus, the intra-chain consortium consensus based on the verification node list is extended to the cross-chain consensus. A smart contract deployment and execution scheme based on rational node value transfer mechanism is proposed by analyzing the value transfer game between nodes. Experimental results showed that the proposed scheme can not only enable patients to share their records safely and autonomously in an authorized medical consortium chain within milliseconds but also realize dynamic adaptive interaction among heterogeneous consortium chains.

A reversible database watermarking method with low distortion.

In this paper, a low distortion reversible database watermarking method based on histogram gap is proposed in view of the large gap in histogram of database integer data. By using the method, the tolerance of the attribute column containing all integer data is firstly calculated and the prediction error is obtained according to the tolerance. Then according to the watermark bits to be embedded, the database tuples will be randomly grouped and the histogram can be constructed by using the prediction error. Finally, the histogram correction rule is used to find the histogram peak bin, the number of consecutive non-zero prediction errors on the left and right sides of the peak is obtained, and the histogram shift is performed on the side with a smaller number of non-zero prediction errors, and then the watermark embedding will be realized. The results of the experiments based on the published dataset of FCTD (Forest Cover Type Dataset) show that compared with the existing GAHSW which also considers distortion, the proposed method significantly reduces the number of histogram column shift while embedding the watermarks, greatly reduces the changes to the carrier data, and effectively reduces the database's data distortion caused by watermark embedding.

Image steganalysis feature selection based on the improved Fisher criterion.

In order to improve the detection accuracy of hidden message in images, steganalysis features are selected as inputs for steganalysers. However, the existing Fisher criterion ignores the contribution of steganalysis feature components in dispersion to classification, which causes the useful feature components to be deleted, and decreases the detection accuracy of steganalysis features. By analyzing the separability of steganalysis feature components, we introduce the sigmoid function into Fisher's criterion and propose an improved Fisher criterion (I-Fisher criterion), which can make up for the traditional Fisher criterion in separability measurement of steganalysis feature components. To optimize the steganalysis feature and reduce its dimension, we employ the improved Fisher criterion as the heuristic function of the decision rough set α-positive region reduction, and propose the feature selection method based on the improved Fisher. Experimental results show that the proposed method can reduce the dimension and memory of the GFR high-dimensional feature and the CC-PEV lowdimensional feature while maintaining or improving the detection accuracy.

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. Herein we report for the first time on a baby with congenital disorder of glycosylation type 1a with atrial septal defect and make a comparison of changes in atrial septal defect by follow-ups to the age of 3. CASE PRESENTATION: Our patient was an 8-month-old Han Chinese boy. At the initial visit, he presented with recurrent lower respiratory infection, heart murmur, psychomotor retardation, inverted nipples, and cerebellar atrophy. Echocardiography revealed a 8 mm secundum atrial septal defect with left-to-right shunt (Qp/Qs ratio 1.6). Enzyme testing of phosphomannomutase 2 demonstrated decreased levels of phosphomannomutase 2 activities in fibroblasts. Whole exon sequencing showed he was heterozygous for a frameshift mutation (p.I153X) and a missense mutation (p.I132T) in PMM2 gene. The diagnosis of congenital disorder of glycosylation type 1a with atrial septal defect was issued. Now, he is 3-years old at the time of this writing, with the development of congenital disorder of glycosylation type 1a (cerebellar atrophy become more severe and the symptom of nystagmus emerged), the size of atrial septal defect increased to 10 mm and the Qp/Qs ratio increased to 1.9, which suggested exacerbation of the atrial septal defect. Congenital heart defect-associated gene sequencing is then performed and shows there are no pathogenic mutations, which suggested intrinsic cardiac factors are not the cause of exacerbation of the atrial septal defect in our patient and it is reasonable to assume congenital disorder of glycosylation type 1a can worsen the situation of the existing atrial septal defect. CONCLUSIONS: This report highlights the view that congenital disorders of glycosylation type 1a should be excluded when faced with congenital heart defect with cerebellar atrophy or neurodevelopmental delay, especially when the situation of congenital heart defect becomes more and more severe.

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. The aim of this study was to evaluate the effectiveness and safety of OROS-MPH in children aged 6 to 16 years with ADHD under naturalistic clinical setting. METHODS: This 6-week, multi-center, prospective, open-label study enrolled 1447 ADHD children to once-daily OROS-MPH (18 mg, 36 mg or 54 mg) treatment. The effectiveness measures were parent-rated Inattention and Overactivity With Aggression (IOWA) Conners I/O and O/D subscales, physician-rated CGI-I and parent-rated global efficacy assessment scale. Blood pressure, pulse rate measurement, adverse events (AEs) and concomitant medications and treatment review were conducted by the investigator and were served as safety measures. RESULTS: A total of 1447 children with ADHD (mean age (9.52 ± 2.36) years) were enrolled in this trial. Totally 96.8% children received an OROS-MPH modal dose of 18 mg, 3.1% with 36 mg and 0.1% with 54 mg at the endpoint of study. The parent IOWA Conners I/O score at the end of week 2 showed statistically significant (P < 0.001) improvement with OROS-MPH (mean: 6.95 ± 2.71) versus the score at baseline (10.45 ± 2.72). The change in the parent IOWA Conners O/D subscale, CGI-I and parent-rated global efficacy assessment scale also supported the superior efficacy for OROS-MPH treatment. Fewer than half of 1447 patients (511(35.3%)) reported AEs, and the majority of the events reported were mild (68.2%). No serious adverse events were reported during the study. CONCLUSION: This open-label, naturalistic study provides further evidence of effectiveness and safety of OROS-MPH in school-aged children under routine practice.