Child ; China ; Genetic Diseases, Inborn ; diagnosis ; genetics ; physiopathology ; Genetic Predisposition to Disease ; Humans ; Nervous System Diseases ; diagnosis ; genetics ; Pathology, Molecular ; Pediatrics ; methods ; trends

Biomedical Research ; Child ; Humans ; Methyl-CpG-Binding Protein 2 ; metabolism ; Rett Syndrome

Objective: To analyze the relationship between thrombin activatable fibrinolysis inhibitor ( TAFI ) and coronary heart disease ( CHD ), and to provide evidence for the prevention of CHD. Methods: The patients with CHD in Fushun Central Hospital in Liaoning Province were selected as the case group, the patients without CHD in the same hospital and period were selected as the control group. The demographic information and clinical examination results ( serum TAFI, lipid, glucose, etc. ) were collected to analyze the association between TAFI and CHD by logistic regression models.The multivariate logistic regression analysis was used to explore the relationship between TAFI and CHD. Results: There were 222 cases, including 100 cases of stable angina, 44 cases of unstable angina and 78 cases of acute myocardial infarction, and 222 controls. The median ages of cases and controls were 62 and 57 years old. The results of multivariate logistic regression analysis showed that serum TAFI>22.88 μg/mL ( P75 of controls ) was associated with the risk of CHD ( OR=1.619, 95%CI: 1.011-2.593 ), unstable angina ( OR=2.917, 95%CI: 1.433-5.939 ) and acute myocardial infarction ( OR=2.626, 95%CI: 1.007-6.847 ). Conclusion The high level of TAFI is related to CHD, unstable angina and acute myocardial infarction.

Objective: To explore the surface-enhanced Raman spectroscopy (SERS) difference of key female fertility indicators, estradiol (E2), anti-Müllerian hormone (AMH) and antral follicle count (AFC) in serum samples of healthy and infertile women, and the possibility of their application in preliminary screening of clinical female fertility. Methods: A total of 236 serum samples of healthy and infertile women of childbearing age were collected from Reproductive Medical Center of the First Affliated Hospital with Nanjing Medical University. The ages of all subjects ranged from 22 to 49 years old, with an average age of (30.8 ± 5.1) years old. The samples were divided into high E2 value group (>5 000 pmol/L, 78 cases) and low E2 value group (<500 pmol/L, 86 cases), high AMH value group (≥1.1 ng/mL, 33 cases) and low AMH value group (<1.1 ng/mL, 30 cases), high AFC value group (> 14, 68 cases) and low AFC value group (<7, 34 cases). Serum SERS analysis was established and Raman spectra of each group were detected. Orthogonal partial least squares discriminant analysis (OPLS-DA), receiver operating characteristic (ROC) curve and permutation test were used to analyze the signals. Results: The Raman spectrum morphology of serum samples was similar between high and low E2 value groups, high and low AMH value groups, and high and low AFC value groups, but the spectral peak intensity of the three indicators was different between the high and low value groups. In the OPLS-DA model, there was an obvious clustering trend in E2, AMH and AFC between the high and low value groups, and the areas under ROC curve were 0.996 and 0.996, 0.995 and 0.995, and 1 and 1 in high and low E2 value groups, high and low AMH value groups, and high and low AFC value groups, respectively. Conclusion: SERS has a potential to be used in the primary screening of female fertility. Serum SERS profle as an auxiliary method for early diagnosis of infertility is worthy of further study.

Objective To elucidate the prevalence and clinical characteristics of human metapneumovirus(hMPV)in hospital- ized children with respiratory infection.Methods A total of 452 hospitalized children with lower respiratory tract infection were observed from Aug 2004 to Jan 2005.Respiratory tract aspirates were collected from all patients within 48 hours after admis sion.The specimens were routinely tested for respiratory syncytial virus,influenza virus A and B,parainfluenza virus 1 to 3 and adenovirus by direct fluorescent assay(DFA).The 245 specimens negative by DFA were tested for hMPV by RT-PCR. PCR products of hMPV M gene from some patients were randomly selected for sequencing analysis.Results hMPV was identi- fied in 59(24.1%)of the 245 specimens tested,hMPV infection alone accounted for 13.1% of the infections in the 452 chil- dren under study,The prevalence of hMPV was higher than other respiratory viruses in winter.The mean age of hMPV-infec- ted children(n=59)was 27.7 months.There was no significant difference between age groups in terms of the prevalence of hMPV(P＞0.05).There were no statistically significant difference in demographics and clinical symptoms between hMPV in- fection and other common respiratory virus infection.Genotyping for the hMPV M gene from 23 Shanghai patients showed two distinct hMPV genotypes.Sequence analysis of these hMPV M genes showed 82.8%-100% homology to the registered se- quence in GenBank.There was no significant difference in clinical characteristics between the 2 genotypes.Conclusions hMPV plays an important pathogenic role in lower respiratory tract infection of children,hMPV prevailed in the winter of 2004.Clini- cally,hMPV infection can not be discriminated from the infection of other respiratory viruses.Clinical manifestation is similar between the two hMPV genotypes.

By functional plates,16 strains which can produce?-mannana-se were isolated frnm 28 Bacillus spp.Using a pair of degenerated primers,the conserved fragments of?-mannanase gene from the selected strains were amplified by PCR.The obtained nucleotide fragments were sequenced and compared with the homologous?-mannanase genes in GenBank and a phylogenetic tree was generated.Comparing to the genes coding?-mannanase published,the cloned nucleotide fragments show the highest sequence identity between 62% and 98%.The genes coding fnr?-mannanase of Bacillus circulus have low identity while the?-mannanase genes of Bacillus subtilis and other Bacillus spp. have high identity.

Objective To explore the diagnostic significance of differential cell count in induced sputum to chronic cough and assessment of airway inflammation.Methods The sputum of 335 chronic cough patients were induced.Differential cell counts were measured in these samples.The side effects were observed during the induced procedure.The final diagnosis was made based on clinical manifestation and examination findings including pulmonary function tests,provocation test,induced sputum cell differentials, etc.Results The cause of chronic cough was defined in 322 patients.The six most important causes of cough were typical asthma(TA,n=84),eosinophilic bronchitis (EB,n=62),atopic cough (AC,n= 42),cough variant asthma (CVA,n=40),gastroesophageal reflux cough(GERC,n=37),rhinitis and/ or paranasal sinusitis (PNDs,n=32),and others and indefinite cause (n=25,13).Percentage of eosinophils were significantly increased in the induced sputum of AC,EB,CVA,and GERC patients (0.005,0.052,0.059,0.234) compared with those in other causes and the healthy controls (0) (P

Abstract: Objective To analyze a case of bloodstream infection caused by Ureaplasma urealyticum after abortion in Anxi County Hospital, so as to provide basis for the clinical diagnosis and treatment. Methods　The diagnosis of Ureaplasma urealyticum in this patient with bloodstream infection was retrospectively analyzed. The basic clinical data and laboratory diagnosis data were collected, including the characteristics of blood culture curve, Wright staining of culture medium, drug sensitivity of Mycoplasma liquid identification, colony characteristics of solid medium, and the conclusion of targeted DNA sequencing. Through the comprehensive analysis of the above data, the rapid diagnosis of this case can be realized by optimizing the detection and diagnosis process. Results　The clinical manifestations of this patient were fever of 38.5 ℃, CRP:14.85 mg/L, WBC:14.33×109/L, NET: 85.40%, PCT: 0.12 ng/mL, IL-6: 665.6 pg/mL, positive after 3 days of blood culture, no bacteria were found in Gram stain, and sand-like purple bacteria were observed after adding Wright's stain. After inoculation in blood agar, Mycoplasma solid and liquid medium, no colonies were grown in blood agar, after 48 h and 5 d. On Mycoplasma A7 agar, the edge of brown fried egg colony was striature, and it could be identified as Ureaplasma urealyticum with the Mycoplasma ID & AST panel, which was resistant to quinolones and spectinomycin, but sensitive to macrolides, tetracyclines and lincomycin. Subsequent targeted DNA sequencing results were also confirmed for Ureaplasma urealyticum. Before receiving the report, clinical experience treatment with ceftriaxone metronidazole was used to fight infection with negative bacilli and anaerobic bacteria. Mycoplasma was not treated with targeted treatment. After 3 days, the patient's body temperature returned to normal, inflammation index decreased, and the patient asked to be discharged. Conclusions　At present, there are few reports of bloodstream infection caused by Ureaplasma urealyticum, and the lack of clinical understanding can easily lead to misdiagnosis and missed diagnosis. In order to improve the detection rate of Mycoplasma in blood culture, it is necessary to optimize the detection procedure of blood culture and provide accurate diagnosis and treatment basis for clinical practice. However, it is clear from this case that Mycoplasma bloodstream infection cases are self-limited infection and can recover by themselves without targeted treatment in patients with normal immunity. Therefore, it is very important to protect the immunity of patients.

Abstract: Objective To analyze the application value of pathological diagnosis in analyzing the reason of death in a case of Methods ， ， occupationalpneumoconiosis. Theoccupationhistory occupationalexposurehistory clinicaldataandpathological - Results data of a dead patient with occupational pneumoconiosis were retrospectively analyzed. The patient was exposed to ， inorganic dust for more than ten years in a private factory. In January 2019 the computed tomography showed diffuse nodular mass with dense shadows in both lungs and left pneumothorax. He was admitted to a number of hospitals and the clinical diagnosis suspected that he suffers from occupational pneumoconiosis. He eventual died of bilateral pneumothorax in a local hospital in December 2020. The forensic identification of the cause of death confirmed that the lungs of the deceased had ， pathologicalchangesconsistentwithoccupationalpneumoconiosisstage Ⅱ secondarybilateralspontaneouspneumothoraxand （ ）， bilateral pleural effusion significant on the left side and the primary cause of death was severe lung disease. According to GBZ 25-2014 Pathological Diagnosis Criteria of Pneumoconiosis，the medical examiner diagnosed that the deceased had （ ） Conclusion suffered from pneumoconiosis before death pneumoconiosis stage Ⅱ . Pathological diagnosis can provide ， objectiveevidenceforthediagnosis differentialdiagnosisandcauseofdeathduetopneumoconiosis.

OBJECTIVE: To study the forensic application of Goldeneye DNA ID 26Y Kit in the She nationality. METHODS: Through capillary electrophoresis, the genotype of 26 Y-STR loci were analyzed in 53 unrelated male individuals from Fujian She nationality. The population genetics parameters such as allele frequency and haplotype diversity were calculated. The comparisons among the She nationality and the other nationalities were analyzed. RESULTS: A total of 126 alleles were observed on the 26 Y-STR loci of 53 unrelated male individuals. The allele frequencies and GD value ranged from 0.010 1 to 0.886 8 and 0.211 2 to 0.846 2, respectively. The GD value was greater than 0.5 in the 19 loci. A total of 47 haplotypes were observed. Based on R(ST), multidimensional scaling plot indicated that the genetic relationship among Fujian She nationality and Minnan Han nationality was closest, followed by Southern China Han nationality and Northern China nationality. CONCLUSION Goldeneye™ DNA ID 26Y Kit including 26 Y-STR loci has good polymorphism in the She nationality. As an additional system, it has forensic application value in some special cases.
Asian People/genetics* ; China ; Chromosomes, Human, Y/genetics* ; Ethnicity/genetics* ; Forensic Genetics ; Genetic Markers ; Genetics, Population ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Population Groups