Proteomics of serum exosomes in children in the acute stage of Kawasaki disease: a prospective study / 中国当代儿科杂志

OBJECTIVES@#To study the biological processes and functions of serum exosomes in children in the acute stage of Kawasaki disease (KD), so as to provide new biomarkers for the early diagnosis of KD.@*METHODS@#In this prospective study, 13 children with KD who were treated in Children's Hospital of Soochow University from June 2019 to August 2020 were enrolled as the KD group, and 13 children who were hospitalized due to bacterial infection during the same period were enrolled as the control group. Whole blood was collected on the next morning after admission, serum samples were obtained by centrifugation, and exosomes were extracted through ultracentrifugation. Serum exosomes were analyzed by label-free quantitative proteomics, and differentially expressed proteins (DEPs) were screened out for functional enrichment analysis. A protein-protein interaction (PPI) network was plotted, and unique proteins were validated by targeted proteomics.@*RESULTS@#A total of 131 DEPs were screened out for the two groups, among which 27 proteins were detected in both groups. There were 48 unique DEPs in the KD group, among which 23 were upregulated and 25 were downregulated, and these proteins acted on "complement and coagulation cascades" and "the MAPK signaling pathway". Validation by targeted proteomics showed that FGG, SERPING1, C1R, C1QA, IGHG4, and C1QC proteins were quantifiable in the KD group. A total of 29 proteins were only expressed in the control group, among which 12 were upregulated and 17 were downregulated. Four proteins were quantifiable based on targeted proteomics, i.e., VWF, ECM1, F13A1, and TTR. A PPI network was plotted for each group. In the KD group, FGG and C1QC had close interaction with other proteins, while in the control group, VWF had close interaction with other proteins.@*CONCLUSIONS@#The serum exosomes FGG and C1QC in children in the acute stage of KD are expected to become the biomarkers for the early diagnosis of KD. For children with unexplained fever, detection of FGG, C1QC1, and VWF may help with etiological screening.

Association between Self-reported Snoring and Prediabetes among Adults Aged 40 Years and Older without Diabetes / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Several previous studies have shown that snoring is associated with glucose metabolism and the development of diabetes, but rare study has shown the association between snoring frequency and prediabetes, particularly in China. We hypothesized that individuals who snore might have a higher risk of prediabetes. This study aimed to investigate the association between self-reported snoring and prediabetes in a Chinese population.</p><p><b>METHODS</b>A cross-sectional study was performed in three large communities of Beijing from December 2011 to August 2012 by recruiting individuals aged ≥40 years old. All participants were requested to complete a detailed questionnaire and undergo anthropometric measurements. A 75 g oral glucose tolerance test was performed in individuals without diabetes. Blood samples of all participants were collected; blood glucose and blood fat levels were measured. Multivariate logistic regression models were built to assess the association between snoring frequency and prediabetes.</p><p><b>RESULTS</b>A total of 13,592 participants (female: 66.56%; mean age: 56.8 ± 7.9 years; mean body mass index: 25.5 ± 3.4 kg/m2) were included in the final analysis. Of these, 30.9% were diagnosed with prediabetes, while 41.3% and 25.4% had occasional and habitual snoring, respectively. Habitual snoring was associated with an increased risk of prediabetes (odds ratio [OR]: 1.3, 95% confidence interval [CI]: 1.1-1.4, P< 0.001), after adjusting for diabetes and sleep-related confounders in the multivariable models. Habitual snoring was also associated with isolated impaired fasting glucose (IFG; OR: 1.3, 95% CI: 1.0-1.6; P< 0.001) and isolated impaired glucose tolerance (IGT; OR: 1.3, 95% CI: 1.2-1.5; P< 0.001), but not IFG + IGT (OR: 1.1, 95% CI: 0.9-1.4; P = 0.281). When stratified by total cholesterol (TC) levels, this association between habitual snoring and prediabetes was observed only in individuals with TC <5.6 mmol/L (OR: 1.4, 95% CI: 1.2-1.6; P< 0.001).</p><p><b>CONCLUSIONS</b>Habitual snoring is associated with prediabetes, but only in individuals with TC <5.6 mmol/L. Further prospective studies are needed to confirm this finding.</p>

Evaluation of Basal Serum Adrenocorticotropic Hormone and Cortisol Levels and Their Relationship with Nonalcoholic Fatty Liver Disease in Male Patients with Idiopathic Hypogonadotropic Hypogonadism / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Prolonged gonadal hormone deficiency in patients with idiopathic hypogonadotropic hypogonadism (IHH) may produce adverse effects on the endocrine homeostasis and metabolism. This study aimed to compare basal serum adrenocorticotropic hormone (ACTH) and cortisol levels between male IHH patients and healthy controls. Moreover, this study compared the basal hypothalamic-pituitary-adrenal (HPA) axis in patients with and without nonalcoholic fatty liver disease (NAFLD), and also evaluated the relationship between basal HPA axis and NAFLD in male IHH patients.</p><p><b>METHODS</b>This was a retrospective case-control study involving 75 Chinese male IHH patients (mean age 21.4 ± 3.8 years, range 17-30 years) and 135 healthy controls after matching for gender and age. All subjects underwent physical examination and blood testing for serum testosterone, luteinizing hormone, follicle-stimulating hormone, ACTH, and cortisol and biochemical tests.</p><p><b>RESULTS</b>Higher basal serum ACTH levels (8.25 ± 3.78 pmol/L vs. 6.97 ± 2.81 pmol/L) and lower cortisol levels (366.70 ± 142.48 nmol/L vs. 452.82 ± 141.53 nmol/L) were observed in male IHH patients than healthy subjects (all p<0.05). IHH patients also showed higher metabolism parameters and higher prevalence rate of NAFLD (34.9% vs. 4.4%) than the controls (all P < 0.05). Basal serum ACTH (9.91 ± 4.98 pmol/L vs. 7.60 ± 2.96 pmol/L) and dehydroepiandrosterone sulfate (2123.7 ± 925.8 μg/L vs. 1417.1 ± 498.4 μg/L) levels were significantly higher in IHH patients with NAFLD than those without NAFLD (all P < 0.05). We also found that basal serum ACTH levels were positively correlated with NAFLD (r = 0.289,p<0.05) and triglyceride levels (r = 0.268, P< 0.05) in male IHH patients. Furthermore, NAFLD was independently associated with ACTH levels in male IHH patients by multiple linear regression analysis.</p><p><b>CONCLUSIONS</b>The male IHH patients showed higher basal serum ACTH levels and lower cortisol levels than matched healthy controls. NAFLD was an independent associated factor for ACTH levels in male IHH patients. These preliminary findings provided evidence of the relationship between basal serum ACTH and NAFLD in male IHH patients.</p>

Changes of myeloid related protein-8/myeloid related protein-14 expressions in children with Kawasaki disease / 中华实用儿科临床杂志

Objective To investigate the expression changes of myeloid-related protein-8 (MRP-8) and myeloid-related protein-14 (MRP-14) in children with Kawasaki disease (KD) and to obtain laboratory diagnostic serum markers and new targets for its drug therapy.Methods A total of 46 patients with KD(KD group) were enrolled from Jul.2009 to Dec.2010 and divided into the coronary artery dilatation(CAD) group(n =15) and the normal coronary artery group(n =31) ;Meanwhile,25 febrile patients with acute respiratory tract infection but without disease in the circulatory,blood,immune systems formed the non-KD febrile group.Twenty healthy children from the out-patient department formed the healthy control group.Peripheral venous blood was collected in the acute and subacute stage of KD.Levels of MRP-8/MRP-14 were detected with enzyme-linked immunosorbnent assay (ELISA).Gene expressions of MRP-8,MRP-14 in leukocytes were analyzed by semi-quantitative reverse transcription-polymerase chain reaction(RTPCR).Results The serum levels of MRP-8/MRP-14 along with mRNA expressions of MRP-8 and MRP-14 in the leukocytes in the out-patient acute and subacute stage of KD were significantly higher than those in the non-KD febrile group and the healthy control group(all P ＜ 0.05) ;There was no significant difference between non-KD febrile group and healthy control group (P ＞ 0.05).The serum levels of MRP-8/MRP-14 along with mRNA expressions of MRP-8 and MRP-14 in leukocyte in actue stage of KD were significantly higher than those in subacute stage(all P ＜ 0.001).The serum levels of MRP-8/MRP-14 as well as mRNA expressions of MRP-8 and MRP-14 in the acute and the subacute stage of CAD group were significantly higher than those in the normal coronary artery group(P ＜ 0.05).Conclusions MRP-8/MRP-14 may probably play a role in the pathogenesis of KD and can be used as a diagnostic indicator for KD;MRP-8/MRP-14 may be involved in the formation of coronary artery lesion and can be used as an effective predictor for the coronary artery lesion.

Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect genetic causes of Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Next-generation sequencing was used to detect 6 DMD patients in whom no exonic deletions were detected by multiplex PCR. Sanger sequencing and multiplex ligation-dependent probe amplification were used to confirm the results.</p><p><b>RESULTS</b>One case was found to have deletions of exons 10 and 11, 1 had exons 16 and 17 duplication, 4 cases have 8 point mutations including c.2776C>T, c.5475delA, c.6391_6392delCA, IVS64+1G>A, c.2645A>G, c.5244G>A, c.7728T>C, c.8729A>T, c.8734A>G and c.8810G>A. The former 4 mutations are suspicious pathogenicity, the other 6 mutations are polymorphisms in population. Three novel mutations (IVS64+1G>A, c.6391_6392delCA (p.Q2131NfsX3) and p.Q926X (CAG>TAG) were not reported before.</p><p><b>CONCLUSION</b>Next-generation sequencing technology is a useful tool for the detection of deletion, duplication and point mutation, which is valuable for clinical application.</p>

Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification / 中华儿科杂志

<p><b>OBJECTIVE</b>To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.</p><p><b>METHOD</b>MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.</p><p><b>RESULT</b>Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.</p><p><b>CONCLUSION</b>Three cases had 22q11 microdeletion in the congenital heart defects.</p>

Psychological intervention for victims of Wenchuan earthquake: From a rational perspective / 第二军医大学学报

This paper is to analyze the characteristics of psychological intervention after China Wenchuan earthquake based on the previous studies of the former earthquakes in China, and to provide evidence for future psychological intervention under similar conditions. Psychological intervention was immediately provided to the victims of Wenchuan earthquake, the rescuers and journalists in the field. Compared with the former earthquakes in China, Wenchuan earthquake proposed new challenges to psychological professionals: not all the counselors or educators were suitable to provide psychological support in the earthquake field; the intervention to earthquake victims was totally different from that to those receiving traditional counseling; and long-term psychological intervention should be planned. The psychologists should be selected carefully and well-trained before working in a field condition; psychologists should be organized as a team when they work in the field so that they can get support from other team members; psychologists could not presume that " everyone who experienced the earthquake would have psychological disorders or posttraumatic stress disorder"; psychologists should serve as a guider to other people as how to correctly treat the victims, especially the wounded, the children and the orphaned; finally, psychologists should incorporate research work in their psychological intervention process.

22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).</p><p><b>METHODS</b>Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR).</p><p><b>RESULTS</b>The average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA).</p><p><b>CONCLUSION</b>The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.</p>