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Additive manufacturing, also known as 3D printing, has been facing the problem of inconsistent processing defects and product quality as a transformative technology, thus hindering its wide application in industry and other fields. In this context, machine learning (ML) algorithms are increasingly used for automatic classification of process data to achieve computer-aided defect detection. Specifically, in this paper, two data-driven classification prediction models are built by monitoring the sensing signals (temperature and vibration data) and interlayer images during the printing process, using the fused deposition model (FDM) as the base case, and the prediction results of the two machine learning models are fused for prediction. The experimental results show that by fusing the prediction results of the two models, the classification accuracy is significantly higher than the prediction results of a single model. These findings can benefit researchers studying FDM with the goal of producing systems that self-adjust online for quality assurance.

Objective Through literature review to retrospectively study the clinical characteristics, treatment and prognosis of Kabuki syndrome with infantile spasm. Methods The clinical data of a case of Kabuki syndrome with infantile spasm hospitalized at the first medical center of Chinese PLA General Hospital in August 2019 were retrospectively analyzed, search on PubMed, CNKI, Wanfang Medical Online and online Mendelian Inheritance in Man (OMIM), to summarize the clinical data of Kabuki syndrome with infantile spasm and to explore its relationship with genotypes. Results A boy, 1 year and 7 months old, was admitted for "growth lag, intermittent convulsions for more than 1 year and 1 month". His growth and development were generally backward, had microcephaly, short stature and spasms, magnetic resonance imaging of brain showed normal, the thyroid hormone and growth hormone levels were normal, genetic analysis revealed a denovo frameshift mutation in KDM6A gene (c.2170-c.2171 delAT, p.I724Ifs*5), electroencephagram showed hypsarrhuthmia, with a series of convulsions, diagnosed as "infantile spasm; Kabuki syndrome", after treating with ACTH, the spasms was completely controlled, multiple reexamination of EEG significantly improved. A total of 16 English literatures and 1 Chinese literature were obtained. There were 48 children had been diagnosed as Kabuki syndrome with epilepsy, including 6 children as Kabuki syndrome and infantile spasm. Among the above 6 cases, only 2 genetic test results were reported, 1 was missense mutation of KMT2D gene (c.96c >G, p.apsp32glu), and 1 was frameshift mutation of KDM6A gene (c.2515_2518del, p.apsn839valfs). Conclusion The new frameshift mutation of KDM6A gene (c.2170-c.2171delAT) in this child could lead to infantile spasm of Kabuki syndrome. Kabuki syndrome could be associated with infantile spasms. If spasm occurs and accompanied by a special face, Kabuki syndrome needs to be considered, gene sequencing should be performed if necessary, early treatment can completely control infantile spasms in all children with Kabuki syndrome, the abnormal of EEG could back to normal, will have a favorable prognosis. DOI: 10.11855/j.issn.0577-7402.2020.04.14

To evaluate whether sirolimus treatment could relieve the later burden of new-onset seizures in patients with tuberous sclerosis complex (TSC) prior to epilepsy.A real-world matched case-control study was nested in another registry cohort study. Infants with TSC (12 months old) without seizures whose parents agreed on sirolimus treatment for other symptoms were eligible for inclusion to the early sirolimus (ES) group. These patients were enrolled from 2015 to 2018. Controls in the late sirolimus (LS) group were matched from the registry cohort database for 2015-2018. Age and genotype were used as the initial stratifying criteria and other symptoms as the greedy matching criteria at a matching ratio of 1:4. None of the preventive drugs were introduced before seizure onset or before 2 years of age in the LS group. Both groups were followed up until June 2020. The primary objective was a comparison of the characteristics of the first seizure between the two groups. The secondary objective was the assessment of the final seizure status at the endpoint.There were 42 and 168 patients with TSC in the ES and LS groups, respectively. Early sirolimus treatment significantly reduced the seizure onset, especially in the patients aged6 months. The mean onset-age was significantly delayed by sirolimus treatment (11.34±7.93 months vs. 6.94±6.03 months, P0.001). The subtype of seizures that benefited the most was spastic (onset) seizures (all were infantile spasms) [5/42 (11.90%) vs. 73/168 (43.45%), P0.001]; these seizures were either eliminated or alleviated. The sirolimus treatment addition prior to seizures was more effective than its addition after seizures in reducing drug-resistant epilepsy [10/42 (23.81%) vs. 70/147 (47.62%), P=0.004].Early sirolimus treatment for TSC effectively modified the disease by preventing infantile spasms, delaying seizure onset, and relieving its severity. The anti-epileptogenic effect of sirolimus may be time- and dose-dependent.

There was no evidence whether the mammalian/mechanistic target of rapamycin pathway hyperactivation and long-term use of mTOR inhibitors have any effects on the physical development of children. The aim was to evaluate these effects by comparing the physical development of children with TSC and normal children.A total of 120 eligible children were enrolled. They were administered sirolimus and followed for at least 12 months. Height, weight, BMI and lipid metabolism index were collected during treatment. Pearson's chi-square and Fisher's exact test were used for comparison of proportions of patients exhibiting normal and abnormal physical growth before and after 1 year of treatment. Logistic regression was used to evaluate the influence of age, sex and abnormal lipid metabolism on the increased BMIs of TSC patients after treatment.Most of the enrolled TSC children were in the normal height, weight and BMI ranges at baseline (91.7%, 95.8% and 78.3%, respectively). Most remained in the normal height, weight and BMI ranges after 1 year of sirolimus treatment (94.2%, 95% and 76.7%, respectively). There was no significant difference in the proportion of physical development before and after treatment (p 0.05). Thirty-eight (38/106, 35.8%) patients had increased BMIs after 1 year of treatment, but there was no significant correlation between age, sex and lipid metabolism and increased BMI.Overactivation of the mTOR pathway and long-term administration of sirolimus does not affect the physical development of children with TSC.

Objective We determined the yield, genetic spectrum, and actual origin of de novo mutations (DNMs) for infantile spasms (ISs) in a Chinese cohort. The efficacy of levetiracetam (LEV) for STXBP1‐related ISs was explored also. Methods Targeted sequencing of 153 epilepsy‐related candidate genes was applied to 289 Chinese patients with undiagnosed ISs. Trio‐based amplicon deep sequencing was used for all DNMs to distinguish somatic/mosaic mutations from germline ones. Results Total of 26 DNMs were identified from 289 recruited Chinese patients with undiagnosed ISs. Among them, 24 DNMs were interpreted as pathogenic mutations based on American College of Medical Genetics and Genomics guidelines, contributing to 8.3% (24/289) of diagnosis yield in the Chinese IS cohort. CDKL5 and STXBP1 are the top genes with recurrent DNMs, accounting for 3.1% (9/289) of yield. Further deep resequencing for the trio members showed that 22.7% (5/22) of DNMs are actually somatic in the proband or a parent. These somatic carriers presented milder seizure attacks than those with true germline DNMs. After treatment with LEV for half a year, three patients with DNM in STXBP1 showed improved clinical symptoms, including seizure‐free and normal electroencephalogram, except for a patient with a second DNM in DIAPH3. Significance Our study confirmed the contribution and genetic spectrum of DNMs in Chinese IS patients. Somatic mutation account for a quarter of DNMs in IS cases. Treatment with LEV improved the prognosis of STXBP1‐related ISs., The contribution and genetic spectrum of de novo mutations (DNMs) was confirmed in infantile spasms (ISs). Somatic mutation accounted for 22.7% of DNMs in IS patients. Treatment with levetiracetam improved the prognosis of STXBP1‐related ISs.

Background: Previously known as the anti-rejection drug, then famous for its efficacy on many mTOR-regulated diseases, sirolimus is now reported as the drug to reverse the process of many age-related diseases, rejuvenate immunity, and extend life span. However, its long-term safety profile for all-age groups is still a concern. Methods: Data were from two 10-year prospective cohort studies (ChiCTR-OOB-15006535，NCT031938), in which patients were diagnosed with tuberous sclerosis and/or lymphangioleiomyomatosis. Indicators on growth, hematopoietic, liver and renal function, and blood lipid were all primary outcomes. GLM analysis and Chi-square test were used to reveal their changes between the baseline and five follow-up periods (< 6 months, 6 to < 12 months, 1 to < 2 years, 2 to < 4 years, and 4-to-10 years)). Four models with cross-validation were constructed for prediction. Descriptive adverse events and the change of regimens were also recorded (secondary outcomes). Findings: 1738 patients aging from 5 days to 69 years were included. The median follow-up period was 25 (12-43) months, and 380 patients were followed for more than four years. Z scores of height, weight, and BMI increased significantly throughout the follow-up (baseline versus 4-to-10-year follow-up: 0·24 vs 0·69, 0·25 vs 0·56, 0·14 vs 0·29). The dose of sirolimus was the only factor related to all the changes. No negative effects on hematopoietic, liver, and renal function were observed throughout the follow-up. On the contrary, the long-term use of sirolimus showed beneficial effects. The increase of blood lipids was mainly in the first six months. Stomatitis was the most common adverse event (920/1738, 52·9% ), and 48·5% of adult females were with menstrual disorders. The economic burden was the main reason for discontinuing therapy. Interpretation: For the first time, we observed the increase in height and weight brought by sirolimus. Also, the length of follow-up was associated with different safety profiles. Some beneficial effects were observed in a longer follow-up. Clinical Trial Registration Details: The pediatric patients in this study are from the "Efficacy and Safety of Sirolimus in Pediatric Patients with Tuberous Sclerosis (ESOSIPT)" study (Chinese Clinical Trial Registration, http://www.chictr.org.cn, No. ChiCTR-OOB-15006535). The adult patients re from "A National Registry on Chinese Patients with Lymphangioleiomyomatosis" (ClinicalTrials.gov, No. NCT03193892). Funding Information: This work was supported by grants from the National Key Research and Development Program of China (No. 2016YFC1000707，No.2016YFC0901502) and the National Natural Science Foundation of China (No. 81471329). Declaration of Interests: The authors have no conflicts of interest relevant to this article to disclose. Ethics Approval Statement: The Ethics Committee of Chinese PLA General Hospital approved the pediatric study (No. S2013-028-01). The Ethics Committee of Peking Union Medical College Hospital (PUMCH) approved the adult study(JS-1323).

Objectives To investigate the efficacy and safety of sirolimus in the treatment of cardiac rhabdomyomas associated with tuberous sclerosis complex and the specific benefits in different subgroups. Study design The study was a prospective cohort and self-controlled case series study. Based on the prevalence of cardiac rhabdomyoma at different ages, we estimated the natural tumor disappearance rate. The subgroup analysis was done by Cox regression. Self-controlled case series method was used to assess the magnitude and duration of the drug effect. Adverse events were described. Results A total of 217 patients were included in the cohort study. Tumor disappearance rate was higher in younger age groups (hazard ratio = 0.99, P = .027) and female patients (hazard ratio = 2.08, P = .015). The age-adjusted incidence ratio showed that the disappearance of rhabdomyomas between 3 and 6 months was more related to sirolimus. Adverse events were observed 60 times in 42 of 217 children, mainly stomatitis. Conclusions Sirolimus can increase the disappearance rate of cardiac rhabdomyoma in the tuberous sclerosis complex population. Efficacy varies by sex and age: female and younger patients have higher tumor disappearance rate. Sirolimus is well-tolerated.

Developmental and epileptic encephalopathy (DEE) is a severe encephalopathy in infants and early childhood. In this study we reported a recurrent de novo variant (c.3985C>T, p.R1330W) in HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) (MIM# 617245) identified by screening 240 patients with DEE and summarized clinical features of published DEE patients with HECW2 variants. Functionally, transcriptional knockdown of zebrafish hecw2a led to early morphological abnormalities in the brain tissues. These results suggest a potential functional link between HECW2 dysfunction and brain development.

Objective Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease and has many manifestations involves virtually any organ. In this study, we report a TSC patient with new type skin lesions. Methods The 7-month-old patient had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. He presented with a 2-month history of gradual growth multiple cutaneous nodules. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples. Results The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). The whole-exome sequencing identified TSC1 (c.2356C>T, p.R786*) mutation in both paraffin block tissue and blood samples. Based on both clinical signs and genetic testing, our patient was definitely diagnosed with TSC and JXG was a new type of skin lesions in TSC. The symptoms improved significantly especially the JXG skin lesions after the treatment of sirolimus. Conclusion This is the first report of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in TSC and pave the way toward an understanding of the pathogenesis and treatment of JXG.

Objective Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions. Methods A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital. We collected the clinical data of the patient. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples. Results The patient presented with a 2 month history of gradual growth multiple cutaneous nodules. He had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). After 3 months of sirolimus treatment, the multiple nodules disappeared. The whole-exome sequencing identified TSC1 (c.2356C > T, p.R786*) mutation in both paraffin block tissue and blood samples. We overturned the original pathological diagnosis and finally identified JXG as a new type of skin lesions in TSC. Conclusion This is the first report on the occurrence of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in patients with TSC and contribute to the elucidation of JXG pathogenesis and treatment.

Purpose Tuberous sclerosis (TSC) is an autosomal dominant inherited disease caused by mutations in the TSC1 or TSC2 gene and results in the over-activation of the mammalian target of the rapamycin (mTOR) signaling pathway. Rapamycin, an mTOR inhibitor, is clinically used to treat hamartomatous lesionsas in TSC and its effect on controlling epilepsy is also reported in many studies. This study aims to evaluate the risk factors of pharmacoresistant epilepsy in patients with TSC receiving long-term rapamycin treatment. Method A total of 108 patients with TSC taking rapamycin for over 1 year were enrolled in this study. Factors that might influence seizure control were statistically analyzed by multiple factor analysis. A subgroup analysis was also conducted to access the relationship between calcified epileptic foci and pharmacoresistant epilepsy. (Clinical trial registration number: ChiCTR-OOB-15006535(2015-05-29)). Results Seizure was controlled in 53 patients but was not managed in 55 patients considered to be drug resistant. Logistic regression analysis showed that calcification in the cerebral parenchyma was a risk factor of pharmacoresistant epilepsy [P = 0.006, odds ratio (OR) = 4.831 (1.577, 14.795)]. Fifteen of 17 patients with calcified epileptic foci suffered from pharmacoresistant epilepsy (88.2%). Seizures in patients with calcified epileptic foci were probably pharmacoresistant (P = 0.010). Conclusion Calcification in epileptic foci strongly indicates pharmacoresistant epilepsy in patients with TSC even when treated with appropriate anti-epilepsy drugs (AEDs) and rapamycin. Calcification can be used to evaluate pharmacoresistant epilepsy in patients with TSC.

Temperature-induced structural variations of retrograded starch gel during long-term storage were investigated in a real food system (wet starch noodles). Fresh starch noodles presented a B-type XRD pattern containing 8.82% crystallinity and 16.04% double helices. In the first 2 weeks, double helices of starch chain formed long-range ordered structure leading to increased crystallinity, and such structural transformation was positively correlated with increasing storage temperature (from 4 °C to 35 °C) and storage time. However, with the extension of storage time to 12 weeks, the disorganization of supra-molecular structure was likely to be observed by decreased crystallinity, double helix and water mobility. Besides, we propose that the area and intensity of Raman band at 2910 cm-1 can be a good indicator for evaluating perfection of crystallinity in starch noodles. These results contributed to a better understanding of mechanisms underlying molecular order changes of retrograded starch gel product during long-term storage.

Mental retardation (MR) is one of the most common cognitive comorbidities in children with tuberous sclerosis, and there are enormous studies about its risk factors. The genetic difference and the severity of epilepsy are the two main factors, but their weight in the occurrence of MR is still unclear. Two hundred twenty-three patients with tuberous sclerosis who received intelligence assessment, genetic mutation analysis, and the epilepsy severity assessment were included in our study. Genotype-neurocognitive phenotype correlations and epilepsy-neurocognitive phenotype correlations were analyzed by binary logistic regression analysis. No statistical significant result was found on genotype-neurocognitive phenotype correlations, which contrasted the previous report. The prevalence of MR was 50.0% for the patients with tuberous sclerosis complex-1 (TSC1) mutation, 54.5% for TSC2 (p=0.561), 54.7% for patients with protein-truncating (PT) and 50.0% for patients with nontruncating (NT) (p=0.791), and 54.3% for patients with family history and 53.7% for patients without family history (p=0.748). Statistical significant results were found on epilepsy-neurocognitive phenotype correlations, both on E-chess score (p=0.01) and the occurrence of infantile spasms (p=0.014), which was consistent to the previous study. For children with tuberous sclerosis, instead of genetic factors, epilepsy may play the main role for the presence of mental retardation. Patients with mental retardation tend to have earlier seizure attack, take more AEDs, have more seizure types, and have higher seizure frequency. Among the four cognitive functions in Denver II, social ability and language ability are more vulnerable to be influenced than fine and gross motor ability.

This study aimed to analyze the therapeutic effect of sirolimus on seizures in pediatric patients with tuberous sclerosis.We first compared the efficacy of controlling seizures in all patients after they had taken sirolimus for one year, and then we performed a subgroup analysis based on whether the administered antiepileptic drugs were changed to determine whether the efficacy was associated with changes of antiepileptic drugs.A total of 91 eligible children were enrolled. The response rate was 78.0 % (71/91), and 47.2 % (43/91) of all patients were became seizure-free. The improvement in seizure control before and after treatment with sirolimus was significant (p 0.001). In the AEDs unaltered group, 34 were responders (34/45, 75.6 %, 95 % CI 17.4-88.3), of which 24 were seizure-free (24/34, 70.6 %). In the AEDs-altered group, 37 were responders (37/46, 80.4 %, 95 % CI 56.7-88.1), of which 19 were seizure-free (19/37, 51.4 %). There was no significant difference between the two groups for reductions in rate of seizure frequency (p = 0.308). In the patients with refractory epilepsy, treatment with sirolimus was also effective (p = 0.01). Logistic regression analysis showed that age was an important factor affecting outcome of epilepsy (p = 0.003, 95 % CI 2.05-38.31). No Grade 3 or 4 adverse events were noted during the follow-up.Sirolimus has a significant effect on seizures associated with tuberous sclerosis complex (TSC), with no or only moderate adverse events after long-term administration. Sirolimus could be used as the first-line medication for pediatric patients with TSC-associated epilepsy.

In this investigation, a model of type 2 diabetes mellitus (T2DM) was used on Sprague-Dawley (SD) rats to clarify more details of the mechanism in the therapy of T2DM. D-chiro-inositol (DCI) was administrated to the diabetic rats as two doses [30, 60 mg/(kg·body weight·day)]. The biochemical indices revealed that DCI had a positive effect on hypoglycemic activity and promoted the glycogen synthesis. The rats in DCI high-dosage group had a blood glucose reduction rate of 21.5% after 5 weeks of treatment, and had insulin content in serum about 15.3 ± 2.37 mIU/L which was significantly decreased than diabetes control group. Real-time polymerase chain reaction (RT-PCR) results revealed that DCI gave a positive regulation on glycogen synthase (GS) and protein glucose transporter-4 (Glut4). Western blotting suggested that DCI could up-regulated the expression of the phosphatidylinositol-3-kinase (PI3K) p85, PI3Kp110, GS as well as the phosphorylation of protein kinase B (Akt) both in the liver and the skeletal muscle. The results also revealed that DCI enhanced the Glut4 expression on skeletal muscle. Above all, DCI played a positive role in regulating insulin-mediated glucose uptake through the PI3K/Akt signaling pathway in T2DM rats.

Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, in addition to other autosomal dominant hereditary diseases. Patients with COL4A1 variants can present with epilepsy, most commonly focal epilepsy. In this paper, we present five patients, three of whom were examined by the authors, and two who were previously reported. Clinically, these five patients were characterized by the presence of West syndrome (WS), periventricular leukomalacia (PVL), and microcephaly, but none had a history of premature birth or hypoxic ischemic encephalopathy (HIE). Genetic testing results indicated that all patients had heterozygous variants of COL4A1. Genetic testing for the COL4A1 variants should be considered when a patient without a history of prematurity or HIE develops WS with PVL and microcephaly.

BACKGROUND The diagnosis of paroxysmal events in infants is often challenging. Reasons include the child’s inability to express discomfort and the inability to record video electroencephalography at home. The prevalence of mobile phones, which can record videos, may be beneficial to these patients. In China, this advantage may be even more significant given the vast population and the uneven distribution of medical resources. OBJECTIVE The aim of this study is to investigate the value of mobile phone videos in increasing the diagnostic accuracy and cost savings of paroxysmal events in infants. METHODS Clinical data, including descriptions and home videos of episodes, from 12 patients with paroxysmal events were collected. The investigation was conducted in six centers during pediatric academic conferences. All 452 practitioners present were asked to make their diagnoses by just the descriptions of the events, and then remake their diagnoses after watching the corresponding home videos of the episodes. The doctor’s information, including educational background, profession, working years, and working hospital level, was also recorded. The cost savings from accurate diagnoses were measured on the basis of using online consultation, which can also be done easily by mobile phone. All data were recorded in the form of questionnaires designed for this study. RESULTS We collected 452 questionnaires, 301 of which met the criteria (66.6%) and were analyzed. The mean correct diagnoses with and without videos was 8.4 (SD 1.7) of 12 and 7.5 (SD 1.7) of 12, respectively. For epileptic seizures, mobile phone videos increased the mean accurate diagnoses by 3.9%; for nonepileptic events, it was 11.5% and both were statistically different (P=.006 for epileptic events; P CONCLUSIONS Home videos made on mobile phones are a cost-effective tool for the diagnosis of paroxysmal events in infants. They can facilitate the diagnosis of paroxysmal events in infants and thereby save costs. The best choice for infants with paroxysmal events on their initial visit is to record their events first and then show the video to a neurologist with longer working years through online consultation.

Rationale: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations. The gastrointestinal bleeding and secondary iron deficiency anemia are the most common complications. There are currently no effective treatments for BRBNS. Here, we report a case of successful treatment with a small dose of sirolimus of a BRBN patient with a de novo gene mutation. Patient concerns: A 12-year-old female was admitted to our hospital with multiple hemangiomas for 12 years. The patient often displayed melena; she recently received transfusion of 2 units of red blood cells once every 2 weeks. Multiple fist-sized hemangiomas were piled up on both sides and back of the neck, and were also noted on the arms, legs, chest, back, and on the tip of the tongue. The laboratory findings demonstrated severe anemia. Blood sample sequencing detected a heterozygous de novo mutation c.2545C > Tin the TEK gene. Diagnoses: Based on these findings, final diagnosis of Blue rubber bleb nevus syndrome (BRBNS) was made. Interventions: After the diagnosis, low-dose sirolimus was orally administered. Outcomes: The patient's hemoglobin was increased after treatment with sirolimus for 1 month. Since the initial treatment with sirolimus, she had not received any blood transfusions. The skin and mucosal hemangioma decreased significantly, and new digestive tract hemorrhage, muscle hematoma, or adverse drug reactions were not observed. Lessons: we report a case of a mutation in exon 15 of the TEK gene leading to BRBN. It was successfully treated with a small dose of sirolimus as an alternative to blood transfusion in order to save the of BRBN patient's life.

Background Posterior reversible encephalopathy syndrome (PRES) is a complication that occurs during various diseases’ treatment. Imaging examination is the gold standard for diagnosis. PRES frequently occurrence in patients with hematological malignancies results in poorer prognosis and higher mortality. We aim to establish a practical and operable scale for early prediction, assessment of the severity of the Posterior Reversible Encephalopathy Syndrome, and timely intervention for better prognosis. Methods The scale designed by reviewing the literature and by referring to clinical practice. We assessed the reliability and validity of the scale. Scale-based assessment of children undergoing chemotherapy for acute lymphoblastic leukemia conducted as early warning and intervention for those who may have PRES. Results Establishment of Posterior Reversible Encephalopathy Syndrome early warning scoring (PEWS) scale included three parts, as follows: (1) risk factors, including underlying disease, hypertension, Infection, and drug toxicity; (2) clinical features, including high cranial pressure, visual symptoms, seizure, and disturbance of consciousness; and (3) EEG features, including slow wave and epileptiform discharges. Utility assessment of PEWS scale showed that in 57 patients with acute lymphoblastic leukemia, 54 scored less than 10 and none of them detected as PRES. The other two had scores of 12 and 13 both diagnosed with PRES by brain MRI scan. Conclusions PEWS scale can predict PRES early. PRES was highly suspected when the score was 10 points and more. Thus, prophylactic intervention can give to improve the prognosis of PRES.

In recent years, the quality requirement of power supply has been significantly increased in smart grid industry. As most of the current substations are in an unattended or under-represented state, it is difficult for us to detect the defect of power equipment and other potential safety hazards in time. To solve this problem, we propose an intelligent interactive system based on patrol robots which have multi-source perceptions. Our proposed system consists of three main parts: a Backstage Management System that is designed for data analysis, image processing, automatic alarms and scheduling optimization; an automatic Patrol Robot System that is capable of path planning, image recognition and speech signal processing; and finally a Communication System which enables communication between human and robots, as well as the cooperation between different patrol robots.

Mouse VD-hemopressin(α) (VD-Hpα) is an undecapeptide that selectively activates CB

We investigated the clinical phenotypes and genetic mutations in Chinese children diagnosed with tuberous sclerosis complex (TSC). Sequencing of TSC1 and TSC2 genes was performed in 117 children with TSC and their parents. Association of TSC gene mutations with clinical manifestations was investigated. All gene mutations were heterozygous including in 16 patients (13.7%) with mutations in TSC1 gene and 101 patients (86.3%) with mutations in TSC2 gene. Among the 16 patients with TSC1 gene mutations, 15 different types of mutations were found, which included 5 novel mutations; all patients had skin manifestations and epilepsy. Among the 101 patients with TSC2 mutations, 85 different types of mutations were found, which included 25 novel mutations; 97 patients (96.0%) had skin manifestations; 97 (96.0%) had epilepsy; 74 (73.3%) had intellectual disability and 25 patients (24.8%) were autistic. The clinical phenotype of the 14 children with familial TSC was more severe than that of their parents.

Neurite outgrowth is an important process in neural regeneration and plasticity, especially after neural injury, and recent evidence indicates that several G

No matter in or outside hospital, the success rate of cardiopulmonary resuscitation (CPR) is very low. The sign of successful CPR is the recovery of spontaneous circulation. The premise of the recovery of spontaneous circulation is the recovery and maintenance of sinus rhythm, but there is still no related research.We aim to study the factors for the recovery and maintenance time of sinus rhythm in patients with CPR.A single-center retrospective case-control study.Ethical review was obtained (ethical approval number: 20180031).The second affiliated hospital of Xi'an Jiaotong University, Xi'an Shaanxi, China.From January 2011 to December 2016, totally 344 cases met the inclusion and exclusion criteria, sinus rhythm recovered group (SR group) (n = 130 cases), sinus rhythm unrecovered group (SUR group) (n = 214 cases).The multivariate logistic regression analysis showed that red blood cell counts (OR = 1.30, 95% CI:1.04-1.63, P = .02), rescue time (OR = 0.95, 95% CI:0.94-0.97, P

D-pinitol, a compound isolated from Pinaceae and Leguminosae plants, has been reported to possess insulin-like properties. Although the hypoglycemic activity of D-pinitol was recognized in recent years, the molecular mechanism of D-pinitol in the treatment of diabetes mellitus remains unclear. In this investigation, a model of type 2 diabetes mellitus (T2DM) with insulin resistance was established by feeding a high-fat diet (HFD) and injecting streptozocin (STZ) to Sprague-Dawley (SD) rats, targeting the exploration of more details of the mechanism in the therapy of T2DM. D-pinitol was administrated to the diabetic rats as two doses [30, 60 mg/(kg·body weight·day)]. The level of fasting blood glucose (FBG) was decreased 12.63% in the high-dosage group, and the ability of oral glucose tolerance was improved in D-pinitol-treated groups. The biochemical indices revealed that D-pinitol had a positive effect on hypoglycemic activity. Western boltting suggested that D-pinitol could promote the expression of the phosphatidylinositol-3-kinase (PI3K) p85, PI3Kp110, as well as the downstream target protein kinase B/Akt (at Ser473). Besides, D-pinitol inhibited the expression of glycogen synthesis kinase-3β (GSK-3β) protein and regulated the expression of glycogen synthesis (GS) protein and then accelerated the glycogen synthesis. Above all, D-pinitol played a positive role in regulating insulin-mediated glucose uptake in the liver through translocation and activation of the PI3K/Akt signaling pathway in T2DM rats.