Diabetes mellitus is a common metabolic disease and poses serious threat to human health. Diabetic complications are the major causes of both morality and disability. In recent years, studies show that the glucose fluctuation plays an important role in the development of chronic diabetic complications. As a new discipline to identify the overall metabolic changes of living organisms, metabolomics provides new insights into the study of diabetes and diabetic complications. In this paper, the recent studies on the development of chronic diabetic complications and blood glucose fluctuation in the field of metabolomics were reviewed.

Based on the dominant fluctuation rates, the speech information in temporal domain could be divided into temporal envelope, periodic fluctuation information and temporal fine structure. Temporal envelope cues are essential for speech recognition, which could be transmitted to cochlear implanters by cochlear imlpants. The roles of temporal envelope cues from various frequency regions in speech recognition are diverse. Influenced by the testing materials, research methods, listening backgrounds and the parameters used to extract temporal envelope, the relative weights of temporal envelope across frequency regions would change accordingly. The research methods as well as their advantages or disadvantages and research results of relative weights of temporal envelope cues in different frequency regions are reviewed, and the possible reasons why the relative weights of temporal envelope cues in different frequency regions for non-tonal language and tonal language were different were discussed simply.

Adipocyte plasma membrane associated protein (APMAP) is a novel integral membrane protein, widely expressed in many organizations in humans. It promotes the differentiation of preadipocytes to mature adipocytes, so as to maintain normal physiological metabolism function in adipocytes, and plays a major role in adipocytes differentiation. Nowadays, some progress has been made in its role of inflammation and consequently in pathogenesis of gestational diabetes mellitus and other diseases. This paper gives a brief review about the structure and function of APMAP and sums up progress of the current studies.

Objective· To correct the false-positive categorization of the rare and benign variants by re-sequencing of the recessive deafness genes in carriers. Methods · Heterozygous carriers of known causative mutations in recessive deafness genes were identified from normal hearing relatives of the deaf probands.Targeted next-generation sequencing was performed in those carriers to identify additional variants in trans,which was presumed to be benign. Results · A total of 30 normal-hearing carriers of heterozygous and known pathogenic mutations were identified. By targeted next-generation sequencing of corresponding genes,32 non-synonymous variants in trans were identified,which were categorized to benign mutations under the recessive and full-penetrant mode.Among those variants p.A434T in SLC26A4,p.R266Q in LOXHD1,p.K96Q in MYO15A,p.T123N in GJB2 and pV1299I in CDH23 were five rare variants with minor allele frequency of less than 0.005.Some of the 5 variants were predicted to be pathogenic by prediction programs including Polyphen-2, PROVEAN, SIFT and MutationTaster, or documented to be pathogenic by Deafness Variation Database or Human Genome Mutation Database. Conclusion · Re-sequencing of the recessive deafness genes in carriers may efficiently correct the false-positive categorization of some rare and benign variants to improve the accuracy and efficiency of the next-generation sequencing in diagnosis of monogenic recessive hereditary disorders.

Objective· To explore the frequency, nondetection rate, and clinical importance of incidental extracerebral findings (IECFs)on brain nonenhanced magnetic resonance imaging(MRI). Methods · The MRI data of 7 930 cases with suspected intracerebral lesionin were retrospectively analyzed. IECFs were categorized as E1 (clinically unimportant, e.g., sinus mucosal thickening), E2 (likely unimportant, e.g.,pharyngeal mucosal symmetrical thickening), and E3 (potentially important, e.g., pharyngeal mucosal asymmetrical thickening). The nondetection rate was determined by comparing the results of the structured approach with the initial MRI reports. The medical records were examined for patients with E3 IECFs to assess clinical importance and outcome of these lesions. Results · A total of 5 992 IECFs were found in 4 213 patients (53.13%, 4 213/7 930). IECFs with E1 was 82.2% (4 924/5 992), E2 was 16.6% (995/5 992) and E3 1.2% (73/5 992). Overall IECFs and E1 findings were occurred more commonly in male patients (P=0.000, P=0.024). And the statistically significant difference was also found among different age groups (P=0.000). The nondetection rate was 56.9% (3 409/5 992) for overall IECFs and 32.9% (24/73) for E3 IECFs. Of the 73 patients with E3 IECFs, 34 (46.6%) received final diagnosis and appropriate treatment during the study period. Conclusion · IECFs are prevalent in clinical patients on brain MRI with a nondetection rate of 32.9% for potentially important (E3) findings. The reporting of IECFs according to clinical importance is helpful for patients' management.

Objective· To explore the detection rate of gastrointestinal problems in autism spectrum disorder (ASD) children. Methods · 336 ASD children aged from 3-8 years old in Department of Developmental and Behavioral Pediatrics in Shanghai Children's Medical Center and Xinhua Hospital were recruited to the study according to the inclusion and exclusion criteria.All of the children met diagnostic criteria of ASD in Diagnostic and Statistical Manual of Mental Disorders,5th Edition.General information about the children,including birth date,gender and gastrointestinal problems during recent 3 months, were completed by parents or caretakers. The detection rate of gastrointestinal problems was depicted in this population. Results · Among 336 ASD individuals, gastrointestinal problems were detected in 85 children. General detection rate for gastrointestinal problems is 25.3%. Specifically, 59 (17.6%) children were with constipation, 12 (3.6%) children with vomiting, 11 (3.3%) children with diarrhea, 7 (2.1%) children with abdominal pain and 6 (1.8%) children with abdominal bloating. There was no significant difference in detection rate for gastrointestinal problems among different age groups (χ2=1.511, P=0.680), as well as in severity scores for gastrointestinal problems (F=0.773, P=0.513). Conclusion · Gastrointestinal problems are often found in Chinese ASD children and persistently occurred in children aged 3 to 8 years old, but the severity score for gastrointestinal problems did not significantly decrease as age increased. More concern must be paid to gastrointestinal problems, especially to constipation. Gastrointestinal problems should be taken as a part of chronic disease management in ASD children.

Objective· To assess the clinical outcome of catheter ablation guided by remote magnetic navigation(RMN) for ventricular arrhythmias (Vas) including ventricular tachycardia (VT) and ventricular premature complex (PVC) originating from ouflow tract (OT). Methods · A total of 42 patients with idiopathic VT/PVC originated from outflow tract were enrolled. All the patients underwent catheter ablation guided by RMN and 3D Carto mapping system. OT-Vas were divided into two groups:right ventricular outflow tract(RVOT) group and left ventricular outflow tract(LVOT) group. Vas arising from LVOT were mapped and ablated by transaortic retrograde and/or transseptal puncture approaches. The primary study endpoint was acute success rate. The secondary study endpoints were procedure-related parameters, including operator X ray time, ablation time, procedure time and complications. Vas recurrence was detected by Holter electrocardiograph (ECG) which was followed-up at 3 months, 6 months and 1 year after ablation. Results · 74% (31/42) Vas arised from RVOT. 93% (39/42) OT-Vas were achieved acute success. The acute success rate was not different between Vas from RVOT and LVOT (30/31 vs 9/11,P=0.160).Compared to LVOT group,the ablation time and fluoroscopic time of RVOT group were significantly reduced s by 31%(P=0.020) and by 33% (P=0.004). There was no major complication in two groups. Within the 11 cases of LVOT-Vas, 4 LVOT-Vas cases which were ablated by tansaortic retrograde with failure were transferred to transseptal approach and ablated successfully. At one-year follow-up, frequent PVCs recurred in 2 out of 39 patients with acute success. Conclusion · Catheter ablation using RMN for OT-Vas is safe and effective with relatively short operator's X-ray time. For LVOT-Vas, mapping and ablation guided by RMN through transseptal approach can improve the acute success rate.

Objective· To establish an integrative method for the gene-panel sequencing data to automatically complete quality control, detection of gene mutation and visualization. Methods · Integrate several methods, e.g. FastQC, preprocessing and information of sequences (Prinseq) to develop an R package that can be used to visualize and control the quality of the raw sequencing reads and final mutations result. The sequencing reads mapped against to the reference genome using Burrows-Wheeler Alignment Tool (BWA)/Torrent Mapping Alignment Program (TMAP). Lofreq, Varscan2, the Genome Analysis Toolkit (GATK) and Torrent Variant Caller (TVC) were used to detect gene mutation and get the variant call format (VCF) format file. Annotate the gene mutation sites using Annovar. Results · Thirty-six cases of acute myeloid leukemia sequencing from Ion Torrent Personal Genome Machine (PGM) platform were passed by this analysis tool.Ten mutation sites of 2 demo data were found in DNMT3A,TET2,JAK2,PHF6,ASXL1,NPM1 and CEBPA which were validated by sanger sequencing. Conclusion · The analysis method that integrated and developed several tools for gene-panel sequencing data analysis can accomplish the gene-panel sequencing data analysis effectively. Besides, it can reduce the false positive ratio and improve the sensitivity of gene mutation detection that provides support for the analysis of gene-panel sequencing data.

Coronary atherosclerotic heart disease (CHD) is a leading cause of death and disability worldwide. Cardiovascular magnetic resonance (CMR) is a multi-parametric imaging modality that yields high spatial resolution images that can be acquired in any plane for the assessment of global and regional cardiac function, myocardial perfusion and viability, anatomy and tissue characterization, all within a single study protocol and without exposure to ionising radiation. With the development of new technologies, CMR has been much more widely used in diagnosing CHD. The evaluation of myocardial viability based on late gadolinium enhancement CMR is very important in diagnosis and treatment of acute myocardial infarction. This article is a medical review about the application progress of CMR in CHD.

Hereditary spastic paraplegia (HSP) is a group of significantly clinically and genetically heterogeneous neurodegenerative disorders, which are predominantly characterized by progressive lower limbs weakness and spasticity inducing gait abnormalities or disorders. In practice, based on the modes of inheritance, it can be divided into autosomal dominant, autosomal recessive, X-linked and mitochondrial maternal inheritance. According to whether the clinical manifestations complicated or not, HSP can be divided into pure and complex form. To date, mutations in 78 distinct loci and 59 mutated gene products have been identified or reported in patients with HSP; among them 20 distinct loci and 13 mutated gene products have been found in autosomal dominant spastic paraplegia. This is a review about the genetic characteristics and research progress of autosomal dominant HSP.