Objective To analyze the karyotypes of 11 cases of Turner syndrome with marker chromosome,and study the phenotypic effects resulting from the abnormal karyotype.Methods Eleven Turner syndrome patients had a mosaic karyotype and carried a marker chromosome,and 6 marker chromosomes were ring chromosomes.Their karyotypes were showed as mos.45,X/46,X,+mar or mos. 45,X/46,X,+r.Fluorescence in situ hybridization(FISH)technique with X/Y centromere probes was performed to determine the origin of the marker chromosome.Reverse chromosome painting technique was used to identify the breakpoints of two largest markers.Phenotype effects with different chromosome breakpoints were compared.Results All the 11 marker chromosomes were ring X chromosomes.The breakpoints of the r(X)were involved in Xp22,Xq22,Xq24 and Xq26,etc.Conclusions The marker chromosomes in Turner syndrome mainly originate from X chromosome and form ring chromosome X.Each r (X)in our patients was mosaic,indicating it was originated from mitosis error during early embryo development.To analyze the origin of the marker chromosome and the breakpoint of r(X)will provide guidance for the therapy and prognosis of the Turner syndrome patient.

AIM:To observe the incidence of ocular fundus disease in preschool children examined by non-mydriatic fundus camera and evaluate its effectiveness compared with direct inspection shadow mirror.
METHODS: Three thousand eight hundred and ninety-six preschool children from April 2012 to October 2013 were examined by Topcon TRC-NW300 color fluorescence fundus camera and direct inspection shadow mirror, and images were saved immediately.
RESULTS: Detection rate of non - mydriatic fundus photography was higher than that of direct inspection shadow mirror. In 3 896 cases, 41 eyes were detected abnormal fundus accounting for 1. 05%. The retinal myelinated nerve fibers, morning glory syndrome, retinitis pigmentosa, congenital retinoschisis were common, accounted for 24. 39%, 21. 95%, 14. 63%, 12-20% respectively. The children eye diseases were often accompanied by abnormal vision (68. 30%), ametropia (63. 41%), strabismus (19. 51%).
CONCLUSION:Non-mydriatic fundus photography is a mydriatic method without medicine, so it is easy for preschool children to accept. Image results could directly display the fundus lesions. It shows important significance in the screening for preschool children eye diseases.

Objective To evaluate the prognostic value of serial 18F-fluorodeexyglucose (FDG) PET/CT in patients with nasopharyngeal carcinoma (NPC).Methods Thirty-seven NPC patients who had 18F-FDG PET/CT scan before and after external beam intensity-modulated radiotherapy, were studied retrospectively.All patients were followed for five years.Correlation analysis between metabolic tumor volume (MTV)/uptake volume index (UVI) and survival was performed by Kaplan-Meier analysis, Log-rank test and multivariate Cox model.Results The 5-year overall survival (OS) and disease-free survival (DFS) rates were 70.3% (26/37) and 62.2% ( 23/37 ), respectively.Patients with a lower MTV (MTV＜30 cm3) had significantly higher 5-year OS ( 82.6% ( 19/23 ) ) and DFS (73.9% ( 17/23 )) rates than those with a higher MTV (OS:50.0% (7/14),x2 =5.28, P＜0.05; DFS:42.9% (6/14),x2 =4.84, P＜0.05).Patients with a lower UV1 (UVI＜150) had significantly higher 5-year OS( 87.5%( 21/24 )) and DFS (79.2% (19/24)) rates than those with a higher UVI (OS:38.5% (5/13),x2 =10.72, P＜0.01;DFS:30.8% (4/13), x2 =11.04, P＜0.01).Multivariate analysis showed that UVI and metabolic response (MR) were independent predictors of DFS.Conclusions Tumor volume parameters, UVI and MR, are independent prognostic factors for patients with NPC.Patients with a high UVI may benefit from more aggressive treatment.

In this study, we explored the mechanism of Huganning tablet (HGNP) in the treatment of nonalcoholic fatty liver disease (NAFLD) based on network pharmacology and computer-aided drug design. Firstly, the potential ingredients and targets of HGNP were identified from TCMSP database, Swiss Target Prediction database, Chinese pharmacopoeia (2015) and literatures, and then the targets of HGNP intersected with NAFLD disease targets that obtained in GeneCards database to acquired potential targets. The bioconductor bioinformatics package of R software was used for gene ontology (GO) enrichment and Kyoto encyclopedia of genes and genomes (KEGG) enrichment analysis. The network of “potential ingredient-key target-pathway” was formed in Cytoscape software to study the interactions between potential ingredients of HGNP, key targets, pathways and NAFLD. Based on the results of network pharmacology, the molecular docking analysis of the key targets and potential active ingredients in HGNP tablets with top degree in the network was conducted using Discovery Studio 2020 software, followed by molecular dynamics simulations, binding free energy calculation, drug-likeness properties analysis and ADMET (absorption, distribution, metabolism, excretion and toxicity) properties prediction. In vitro, HepG2 cells were used to establish steatosis model, and the effects of five key compounds on hepatocyte steatosis were analyzed by oil red O staining and triglyceride (TG) content determination. The results showed that 141 ingredients and 151 potential targets were obtained. A total of 2 526 items and 151 pathways were identified by GO and KEGG enrichment analysis. The molecular docking suggested that five components, isorhamnetin, salvianolic acid B, emodin, resveratrol and rhein, exhibited strong binding ability with key targets [retinoic acid receptor RXR-alpha (RXRA), tumor necrosis factor (TNF), glycogen synthase kinase-3 beta (GSK3B), serine/threonine-protein kinase 1 (AKT1)]. It was further verified that isorhamnetin and salvianolic acid B bind to key targets with good structural stability and binding affinity based on molecular dynamics simulations and binding free energy calculations. The drug-likeness properties, pharmacokinetic properties and toxicity of five key compounds were more comprehensively analyzed through drug-likeness properties analysis and ADMET properties prediction. In vitro, all five compounds, isorhamnetin, salvianolic acid B, emodin, resveratrol, and rhein, improved hepatocyte steatosis of HepG2 cells, confirming the reliability of the present study. In conclusion, based on network pharmacology, computer-aided drug design and in vitro validation, this study investigated the mechanism of HGNP for the treatment of NAFLD at multiple levels and provided a basis for its clinical application.

China ; epidemiology ; Enterovirus ; genetics ; isolation & purification ; Genes, Viral ; Hand, Foot and Mouth Disease ; epidemiology ; virology ; Humans

OBJECTIVETo analyze the clinical and laboratory features of anti-soluble liver antigen/liver-pancreas (SLA/LP) autoantibody positive patients with abnormal liver functions.

METHODSFrom July 1999 to August 2004, 4928 serum samples from patients with abnormal liver functions (ALT >40 U/L) were collected. A series of autoantibody examinations were carried out. Clinical manifestations and laboratory findings of 8 patients with anti-SLA/LP autoantibody positive were reviewed.

RESULTSAmong the 5500 serum samples, 8 cases (6 females and 2 males) with positive anti-SLA/LP autoantibodies were found with complete clinical information. The age of the patients was (27-76) years old. The case histories were from 2 years to 10 years. Of the 8 patients, 6 cases had liver cirrhosis and HBsAg-negative and anti-HCV-negative, active, 1 case had liver cirrhosis with HBsAg-positive, but HBVDNA negative; 1 case had liver cirrhosis and anti-HCV positive, but HCV RNA negative. The 8 cases were all ANA positive with titers of 31:320. Four cases were AMA positive and 2 among these 4 cases were M2 positive. The most frequent symptoms were fatigue, anorexia, nausea, jaundice, abdominal distention and edema of lower limbs. All patients had high hypergammaglobulinemia.

CONCLUSIONAnti-SLA/LP autoantibody was at a low detection rate in the study with females in preponderance, Clinical and laboratory characteristics of the 8 cases were consistent with those of the autoimmune hepatitis (AIH). Testing for anti-SLA autoantibodies helps in the diagnosis of AIH in many patients who may otherwise be misdiagnosed.

Adult ; Aged ; Autoantibodies ; immunology ; Autoantigens ; immunology ; Female ; Hepatitis, Autoimmune ; diagnosis ; immunology ; Humans ; Male ; Middle Aged ; Pancreas ; immunology ; Sequence Homology

OBJECTIVETo discuss the diagnostic methods and features of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA).

METHODSA total of 22 cases of ALCAPA hospitalized between 2000 and 2007 were recruited and divided into infant group (age < or = 1 year, n = 10) and older children group (age > 1 year, n = 12). The patients' history, electrocardiography (ECG) and echocardiography were reviewed and analyzed retrospectively. ECGs were analyzed as follows: (1) Q wave and T wave inversion in lead I, (2) Abnormal Q wave and T wave inversion in lead aVL, (3) Q wave in lead V(5-6), (4) T wave inversion and ST changes in lead V(4-6), (5) LV hypertrophy. Echocardiograms were analyzed as follows: (1) Continuity of the left coronary artery (LCA) and pulmonary artery (PA), (2) Retrograde shunt into PA, (3) Increased papillary muscle echodensity, (4) Right coronary artery (RCA) dilation, (5) Collateral signals within the ventricular septum.

RESULTSThe presence of cardiomegaly in X-ray film (18/22), aVL QT pattern in ECG (17/22), retrograde color Doppler flow into pulmonary artery (20/22), anterior lateral papillary echogenic (17/22) and collateral vessel signals (16/22) in echocardiography were high in both groups (P > 0.05). The presence of clinical symptoms and abnormal Q wave in leads Iand V(5-6) in ECG were significantly higher in the infant group than in the older children group (P < 0.05). But the presence of right coronary artery dilation was significantly lower in the infant group than in the older children group (P < 0.05).

CONCLUSIONDifferent diagnostic features were found in infant and older children patients. With combination of patient history, electrocardiogram and echocardiogram, accurate diagnosis could be obtained in most pediatric patients with ALCAPA.

Adolescent ; Child ; Child, Preschool ; Coronary Vessel Anomalies ; diagnosis ; Echocardiography ; Electrocardiography ; Female ; Humans ; Infant ; Male ; Pulmonary Artery ; abnormalities ; Retrospective Studies

OBJECTIVETo determine the karyotype of a patient with Prader-Willi-like syndrome features.

METHODSChromosomal high resolution banding was carried out to analyze the karyotype of the patient, and methylation-specific PCR was used to analyze the imprinting region of chromosome 15. Subtelomeric region was screened by multiplex ligation-dependent probe amplification (MLPA), and fluorescent in situ hybridization (FISH) and real-time quantitative PCR were further performed to identify the deleted region.

RESULTSNo abnormality was discovered by high resolution karyotype analysis and methylation-specific PCR studies. MLPA analysis showed that the patient had a deletion of 1p subtelomeric area, which was confirmed by FISH analysis. The deleted region was shown within a 4.2 Mb in the distal 1p by 3 BAC FISH probes of 1p36 combined with real-time PCR technique. Family pedigree investigation showed the chromosome abnormality was de novo. Therefore, partial monosomy 1p36 was likely responsible for the mental retardation of the patient.

CONCLUSIONMolecular cytogenetic techniques should be performed to those patients with Prader-Willi-like syndrome features, to determine their karyotypes.

Child ; Chromosome Deletion ; Chromosomes, Human, Pair 1 ; genetics ; Female ; Humans ; Karyotyping ; Prader-Willi Syndrome ; genetics

OBJECTIVETo establish a single-cell whole genome amplification (WGA) technique, in combination with comparative genomic hybridization (CGH), for analyzing chromosomal copy number changes, and to explore its clinical application in preimplantation genetic diagnosis (PGD).

METHODSTwelve single-cell samples with known karyotypes, including 5 chorionic villus samples, 4 human embryonic stem cell (hESC) samples and 3 peripheral lymphocyte samples, and 4 single blastomere samples carrying chromosomal abnormalities detected by PGD, were collected for whole genome amplification by combining primer extension preamplification (PEP) with degenerate oligonucleotide primed-PCR (DOP-PCR) amplification. The amplified products labeled by red fluorescence were mixed with control DNA labeled by green fluorescence, and then the mixture was analyzed by CGH. As a comparison, 10 single cell samples were amplified by DOP-PCR only and then CGH analysis was performed.

RESULTSThe amplification using PEP-DOP-PCR was more stable than traditional DOP-PCR. The products of PEP-DOP-PCR range from 100 bp to 1000 bp, with the mean size being about 400 bp. The CGH results were consistent with analyses by other methods. However, only 6 out of 10 single cell samples were successfully amplified by DOP-PCR, and CGH analysis showed a high background and 2 samples showed inconsistent results from other methods.

CONCLUSIONPEP-DOP-PCR can effectively amplify the whole genome DNA of single cell. Combined with CGH, this WGA method can successfully detect single-cell chromosomal copy number changes, while DOP-PCR was easy to fail to amplify and amplify inhomogeneously, and CGH analysis using this PCR product usually showed high background. These results suggest that PEP-DOP-CGH is a promising method for preimplantation genetic diagnosis.

Comparative Genomic Hybridization ; methods ; DNA Primers ; Genetic Testing ; methods ; Humans ; Karyotyping ; methods ; Nucleic Acid Amplification Techniques ; methods ; Nucleic Acid Hybridization ; methods ; Oligonucleotides ; chemistry ; Preimplantation Diagnosis ; methods

Objective To investigate the incidence and risk factors of neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture. Methods Live born infants, including those diagnosed with neonatal asphyxia, were recruited from 16 different hospitals in Hubei Enshi Tujia and Miao Autonomous Prefecture from January to December of 2016. The 16 hospitals included four grade A tertiary hospitals (three general hospitals and one traditional Chinese medicine hospital) and 12 grade A secondary hospitals (eight general hospitals, one maternal and child health hospital and three traditional Chinese medicine hospitals). A retrospective investigation was conducted using questionnaire to analyze the basic information, perinatal risk factors and prognosis of those infants. Chi-square test was used for statistical analysis. Results Among 22 294 recruited live born infants, 733 (3.29%) were diagnosed with neonatal asphyxia on discharge, including 627 (85.54%) mild cases and 106 (14.46%) severe cases. And neonatal asphyxia resulted in deaths of 27 cases (3.68%). The risk factors for neonatal asphyxia included multiple pregnancy, pregnancy conceived with assisted reproductive technology, premature infant, low birth weight infant, fetal malposition, congenital malformation, male infant, born during transfer, mother of Tujia nationality, low educational level (primary school or lower), living in rural area, the number of antenatal visits ≤3, history of early threatened abortion, anemia in pregnancy, hypertensive disorders of pregnancy, chorioamnionitis, abnormal pregnancy history and abnormality of umbilical cord, amniotic fluid or placenta. Conclusions The incidence of neonatal asphyxia in Enshi area is obviously higher than the national average. The main risk factors for neonatal asphyxia in this area are related to maternal background and the living condition of the mother during pregnancy, delivery as well as the newborn at birth.