Objective To evaluate the application value of whole exome sequencing (WES) in diagnosis of NDDs (neuro-developmental disorders) children.Metheod WES was used for the diagnosis of 35 unexplained NDD children, which admitted to the outpatient and ward of Children′s hospital affiliated to Capital institute of pediatric from November 2015 to November 2016.These children′s clinical data was collected detailedly.Using bioinformatics software tools combining with patient′s phenotype, the candidate genetic/genomic variants of these patients were identified from WES data.The final pathogenicity of genetic/genomic variants was interpreted according to the guideline of the American College of Medical Genetics and Genomics (ACMG), meanwhile, the variants validation and co-separation analysis in the parents and their family members were performed by Sanger sequencing, real time-PCR and multiplex ligation-dependent probe amplification (MLPA).Results 14 pathogenic single nucleotide variants (SNVs) and three pathogenic copy number variations (CNVs) were detected in the 35 NDD children, the detection rate in this study is 48.6%.Among the 14 pathogenic SNVs, 11 of them are the definite NDD-related genes according to OMIM database (such as CHARGE syndrome, Wiedemann-Steiner syndrome, Cockayne syndrome, etc.), and six of them are de novo (6/11, 54.6%).Three pathogenic CNVs were identified from WES data, including two microduplications and one microdeletion.Meanwhile, a female child carrying a frame shift mutation in MECP2 was found and the germline mosaicism with low-frequency mutation of this site (8.4%) was confirmed by his father's sperm.Conclusions The diagnosis rate of WES in NDDs children is 48.6% in our small-sample study.In addition to pathogenic/likely pathogenic SNVs, CNVs can be detected successfully from WES data, which effectively improved the diagnosis yield in NDDs children.

Four crystalline forms of clopidogrel bisulfate were characterized by analytical techniques. Aiming to research the absorption characteristics of clopidogrel bisulfate polymorphs after taken orally by rat, and to estimate the influence of crystal form to pharmacodynamic action, four crystalline forms of clopidogrel bisulfate were administered intragastrically to rats, and high performance liquid chromatography (HPLC) was used to measure the contents of clopidogrel bisulfate and its metabolite in rat plasma. The metabolite of clopidogrel bisulfate was detected in rat plasma. There were significant deviations among four crystalline forms in the areas under curve of the metabolite of clopidogrel bisulfate. We concluded that the different crystal forms of clopidogrel bisulfate showed different pharmacokinetic characteristics, which might affect pharmacodynamic action.
Absorption ; Administration, Oral ; Animals ; Area Under Curve ; Calorimetry, Differential Scanning ; Chromatography, High Pressure Liquid ; Crystallization ; Male ; Platelet Aggregation Inhibitors ; administration & dosage ; chemistry ; pharmacokinetics ; Random Allocation ; Rats ; Rats, Wistar ; Spectrophotometry, Infrared ; Ticlopidine ; administration & dosage ; analogs & derivatives ; blood ; chemistry ; pharmacokinetics ; X-Ray Diffraction

BACKGROUNDBiofilms have given new insights to the understanding of pathogenesis of chronic rhinosinusitis (CRS). However, the link between biofilms formation and local inflammatory response remains poorly defined in CRS with nasal polys. The aim of this study was to determine the potential association of the presence of biofilms in the nasal mucosal tissues with clinical features in Chinese patients, which had CRS with nasal polyps (CRSwNP).

METHODSA total of 19 patients with CRSwNP and 12 patients with non-CRS were subjected to endoscopic surgery and their nasal mucosal tissue specimens were examined histologically and by scanning electron microscopy (SEM). Their demographic and clinical features were recorded.

RESULTSThirteen (68.4%) out of the 19 specimens from patients with CRSwNP, but none from control patients, were positive for biofilms that displayed typical characteristics of bacterial and fugal structures. The presence of biofilms in the nasal mucosal tissues was associated with significantly greater values of purulent nasal discharge and preoperative Lund-Kennedy scores, higher levels of serum total IgE and percentages of subjects with endoscopic surgery (ESS) history in patients with CRSwNP, and more severe inflammation in the nasal mucosal tissues of patients with CRSwNP.

CONCLUSIONOur study demonstrated the presence of biofilms in the nasal mucosal tissues of many patients, contributing to the understanding of the pathogenic process of CRSwNP in Chinese patients.

Adolescent ; Adult ; Biofilms ; Chronic Disease ; Female ; Humans ; Male ; Microscopy, Electron, Scanning ; Middle Aged ; Nasal Mucosa ; pathology ; Nasal Polyps ; etiology ; microbiology ; pathology ; Rhinitis ; etiology ; microbiology ; pathology ; Sinusitis ; etiology ; microbiology ; pathology

OBJECTIVEThrough observing the morphology and topography of the prepared influenza viruses (H1N1) treated with the different Nonidet P-40 solutions using atomic force microscopy (AFM), to explore the application of AFM on the research of the internal character of viral morphology and structural virology.

METHODSThe virus samples were treated with serial diluted Nonidet P-40 solutions from 0.05% to 0.20% and then investigated by AFM with the tapping mode in air at room temperature to obtain the morphology and topography changes including height data,amplitude data and phase data for both spherical and filamentous influenza virus A.

RESULTSThe serial AFM images show that the erosion degree of the virions is proportional with the improvement of NP-40 concentration,and partly denuded virion image appeared at 0.05% NP-40 treatment, which was revealed clearly on both amplitude images and phase images.

CONCLUSIONThis work demonstrated for the first time that the internal topography of influenza virion could be revealed by AFM via suitable nonionic surfactants chemical dissection.

Humans ; Influenza A virus ; chemistry ; drug effects ; Microscopy, Atomic Force ; instrumentation ; Nanostructures ; Orthomyxoviridae ; chemistry ; drug effects ; Polyethylene Glycols ; pharmacology ; Spermatocidal Agents ; pharmacology

Objective To investigate the activities of infraspinatus (IS) and posterior deltoid (PD) under shoulder external rotation at open kinetic chain (OKC) and closed kinetic chain (CKC) exercise with shoulder abduction 0° and 90° to determine the optimal external rotation rehabilitation exercise.Methods From April to June, 2018, 19 healthy adults finished the movement of 0° OKC, 0° CKC, 90° OKC and 90°CKC. The root mean square (RMS) of IS and PD was recorded with surface electromyography (sEMG), then the standardized RMS (RMS％), ratio of IS/PD and onset time of activation were calculated.Results RMS％ of PD was the minimal at 90° CKC, and was less than that of 0° CKC (P ＜ 0.05). IS/PD was the most at90° CKC, and was more than that of 90° OKC (P ＜ 0.05). The onset time of IS was the earliest in 90° CKC, and earlier than that of 90° OKC (P ＜ 0.05) and 0°OKC (P ＜ 0.05). The onset time of PD was the latest in 0° CKC, and latter than that of 90° OKC (P ＜ 0.05).Conclusion 90°CKC activates IS mostly and earliest, which can be used in early rehabilitation for rotator cuff injury.

Objective:To explore the effect of emergency "zero channel" process on improving the efficiency of intravenous thrombolysis in stroke.Methods:Fifty-eight acute ischemic stroke patients admitted to our hospital from January 2020 to December 2020 were enrolled into experimental group; another 58 acute ischemic stroke patients admitted to our hospital from January 2019 to December 2019 and matched with age and gender were selected as control group. "Green channel" process was adopted for patients in the control group, and optimized "zero channel" process (moving the working passageway forward to the ambulance) was implemented for patients in the experimental group. Door to rescue room time (DRRT), door to consultation time (DCT), door to laboratory examination completion time (DLECT), door to CT report time (DCRT), and door to needle time (DNT) were used to evaluate the times of emergency treatment. The thrombolytic effect of the two groups was compared by evaluating the recanalization rate of occluded vessels and thrombolytic efficiency. Modified Rankin scale (mRS) was used to evaluate the prognoses 6 months after treatment in both groups, and mRS scores≤2 was defined as good prognosis.Results:The DCRT, DCT and DNT in the experimental group were significantly shorter than those in the control group ( P<0.05); the compliance rate of DNT≤60 min in the experimental group was significantly higher as compared with that in the control group ( P<0.05). The immediate recanalization rate of occluded vessels in the experimental group and control group was 60.3% and 27.6%, and the thrombolytic efficiency was94.83% and 82.76%; significant differences were noted between the two groups ( χ2=12.633, P<0.001; χ2=4.245, P=0.039). The good prognosis rate of the experimental group and control group was 36.2% and 15.5%, respectively, after 6 months of follow-up ( χ2=4.016, P=0.041). Conclusion:Emergency "zero channel" can further shorten DCT, DCRT, and DNT, and improve the efficiency of thrombolysis and prognoses of acute ischemic stroke patients.

OBJECTIVETo explore the association between hypertension and the tendency of change among children,so as to lay a foundation for the prevention and control of hypertension.

METHODSBased on findings from the prevalence survey that carried out in September 1999 in Daqing of Heilongjiang province. New admission children were selected as subjects to conduct a five-year cohort study. All the subjects were interviewed with questionnaires and their blood specimens were collected for biochemical analysis. All data were analyzed using SPSS 10.0 software. Results The prevalence of hypertension among 447 children was found 2.01% at the baseline study but increased to 5.37% in the fifth year. During a five year period, the systolic pressure level among children increased from (100.65 +/- 11.62)mmHg (1 mm Hg = 0.133 kPa) to (106.67 +/- 9.29) mm Hg,while the diastolic pressure level was from (66.27 +/- 11.31) mm Hg to (70.28 +/- 7.98) mm Hg and showed significant difference between boys and girls. There were association between hypertension and family history, body mass index (BMI), triglyceride, insulin, insulin resistance index while insulin sensitivity index and family history, BMI and insulin sensitivity index appeared to be the important factors. Children under this study were divided to 'with family history or without' and then every group was divided to 'with over weight-obesity or normal'. Obesity and insulin sensitivity seemed the key risk factors on hypertension. Descent of insulin sensitivity was an independent risk factor.

CONCLUSIONThe level of blood tension among children in Daqing city was higher than that from the national data. The present study confirmed that over-weight,obesity, heredity and insulin resistance were the risk factors of hypertension while insulin resistance was related to hypertension. The interaction of these risk factors was independent or correlated to each other.

Blood Pressure ; Body Mass Index ; Child ; Child, Preschool ; China ; epidemiology ; Cohort Studies ; Female ; Humans ; Hypertension ; blood ; complications ; epidemiology ; Insulin Resistance ; Male ; Overweight ; complications ; Risk Factors ; Triglycerides ; blood

Objective: This study aimed to understand the characteristics of dietary patterns among children aged 12 to 23 months and discusses the relationship between dietary patterns and the growth of children. Method: Cross-sectional data were selected from the National Nutrition and Health Systematic Survey for 0 to 18 year-old children in China ( Results: Four dietary patterns were identified among the children Conclusion Although China is undergoing rapid urbanization and economic development, there is still a phenomenon of insufficient intake of protein-rich foods and dairy-based dietary patterns at the stage of complementary food introduced among children aged 12 to 23 months.
China ; Cross-Sectional Studies ; Female ; Growth ; Humans ; Infant ; Infant Nutritional Physiological Phenomena ; Male

Genetic markers in forensic DNA typing experienced the variable number of tandem repeats （VNTR） sequences and the short tandem repeats （STR） sequences. With the emerge of sequencing technology, the third generation of genetic markers were found out, which usually have two alleles including single nucleotide polymorphism （SNP） and insertion/deletion （InDel）, also known as biallelic genetic markers. Because of the insertions or deletions of DNA fragments, InDel genetic marker reveals DNA fragment length polymorphism and widely distributes across the whole genome. InDel genetic marker is numerous and has the characteristics of STR and SNP genetic markers, which has been applied in the fields of genetics and anthropology. This review focuses on the research progress of InDel genetic marker in forensic science, aiming to review and summarize the main research findings in recent years and provide clues for future researches.
Alleles ; DNA/genetics* ; DNA Fingerprinting ; Forensic Genetics ; Genetic Markers ; INDEL Mutation ; Microsatellite Repeats ; Polymorphism, Single Nucleotide

Objective: To compare the application of China growth standard for children under 7 years of age (China standards) and World Health Organization child growth standards (WHO standards) in evaluating the prevalence of malnutrition in children aged 0-<6 years in China. Methods: The research data came from the national special program for science & technology basic resources investigation of China, named "2019-2021 survey and application of China's nutrition and health system for children aged 0-18 years". Multi-stage stratified random sampling was used to recruit 28 districts (regions) in 14 provinces, autonomous regions or municipalities across the country. Children (n=38 848) were physically measured and questionnaires were conducted in the guardians of the children. The indicators of stunting, underweight, wasting, overweight and obesity were evaluated by China standards and WHO standards respectively. Chi-square test was used to comparing the prevalence of each nutritional status between the two standards, as well as the comparison between the two standards by gender and age. Results: Among the 38 848 children, 19 650 were boys (50.6%) and 19 198 were girls (49.4%), 19 480 urban children (50.1%) and 19 368 rural children (49.9%). The stunting, underweight and wasting cases in the study population were 2 090 children (5.4%), 1 354 children (3.5%) and 1 276 children (3.3%) according to the China standards, and 1 474 children (3.8%), 701 children (1.8%) and 824 children (2.1%) according to the WHO standards, respectively; the above rates according to the China standards were slightly higher than those to the WHO standards (χ²=111.59, 213.14, and 99.99, all P<0.001). The overweight and obesity cases in the study population were 2 186 children (5.6%) and 1 153 children (3.0%) according to the China standards, and 2 210 children (5.7%) and 1 186 children (3.1%) according to the WHO standards, with no statistically significant differences (χ²=0.14 and 0.48, P=0.709 and 0.488, respectively). Compared to the results based on WHO standards, the China standards showed a lower prevalence of overweight and obesity in boys (χ²=14.95 and 5.85, P<0.001 and =0.016, respectively), and higher prevalence of overweight in girls (χ²=12.60, P<0.001); but there was no statistically significant differences in girls' obesity prevalence between the two standards (χ²=2.62, P=0.106). Conclusions: In general, the prevalence of malnutrition among children aged 0-<6 years based on China standards is slightly higher than that on WHO standards. To evaluate the nutritional status of children, it is advisable to select appropriate child growth standards based on work requirements, norms or research objectives.
Male ; Female ; Child ; Humans ; Child, Preschool ; Nutritional Status ; Overweight/epidemiology* ; Thinness/epidemiology* ; Obesity/epidemiology* ; Malnutrition/epidemiology* ; Growth Disorders/epidemiology* ; China/epidemiology* ; Prevalence