OBJECTIVEThis study aimed at using cone beam computed tomography (CBCT) to study the influence ofprolonged unilateral posterior teeth loss on bilateral condylar morphology.

METHODSThe CBCT images of 30 patients withprolonged unilateral posterior teeth loss and 30 healthy people as controls were corrected. Mimics 15.0 software was used tomeasure volume, area, distance, and bone density of condyle. The results were statistically analyzed.

RESULTSThe volumeand bone density of condylar head and the entire condyle on missing teeth side were less than the contralateral side (P<0.05).The area and bone density of condylar transverse plane were greater than the contralateral side (P<0.05).

CONCLUSIONAfter prolonged unilateral posterior teeth loss, adaptive reconstruction occurs in the bilateral condyles, and condyle of missing teethside is smaller than the contralateral side.

Bone Density ; Case-Control Studies ; Cone-Beam Computed Tomography ; Humans ; Mandibular Condyle ; pathology ; surgery ; Software ; Tooth Loss

ObjectiveTo evaluate the value of serum galactomannan platelia aspergillus kit in the diagnosis and treatment of invasive fungal infection(IFI) patients. MethodsA total of 178 serum samples from 74 high risk patients were collected. ELISA assay was used to detect the level of GM antigen. Refer to domestic IFI diagnostic criteria, 16 patients include the proven cases and probable cases were defined as study group, while 29 patients of improbable cases defined as control group. Fourflod table was founded,by which the sensitivity,specificity,positive predictive value, negative predictive value of this GM test were calculated. Meanwhile, a total of 53 patients received antifungal therapy which divided into GM-positive group(21 patients with I≥0. 5) and GM-negative group(32 patients with I ＜0. 5). The therapeutic effect comparison of two groups was made according to curative effect criterion. ResultsAccording to the certainty level of IFI diagnosis, 1,9,10 and 4 patients were identified as GM positive in proven, probable,possible and improbable IFI groups respectively. The prevalence of GM in these 4 groups was 50％ ,64％ ,34％ and 14％ ,respectively. The sensitivity and specificity of galactomannan ELISA assay were 63％ ,86％ respectively. The positive and negative predictive values were 71％ and 81％ respectively. The diagnose accordance rate was 78％, the Younden index was 0. 49. The efficacy of fluconazole in GM-positive patients was significant lower than in GMnegative patients( x2 =4. 95 ,P ＜0. 05) ,while The efficacy of non-fluconazole drug was superior to that in GM-negative patients( x2 =4. 88,P ＜ 0. 05). After antifungal therapy, the GM value of GM-positive patients decreased significantly( t =2. 13 ,P ＜0. 05). ConclusionThe galactomannan ELISA assay with high specificity, could be helpful in diagnosis and choicing effective anti-fungi drug in clinic.

Objective:To analyze the clinical phenotypes and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental (OFCD) syndrome.Methods:A pregnant woman at 17 gestational weeks was admitted to the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School in 2017 for genetic counseling. Genetic tests as performed for the proband (the pregnant woman), her husband, and the induced fetus of last pregnancy genetic test and the detected variants were analyzed and verified by chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and quantitative real time-polymerase chain reaction (Q-PCR). The detection platform established by MLPA and Q-PCR technology was used to perform prenatal diagnosis of the present pregnancy. Other family members were screened for BCOR gene mutation. Related mutation types were retrieved from ClinVar database with term of " BCOR", and related literature from CNKI and PubMed with terms of "OFCD syndrome", " BCOR gene", and "oculo facio cardiac dental syndrome" to summarize the clinical manifestations, mutation type and pathogenesis of this disease. Results:The proband has congenital cataracts, long face, congenital atrial septal defect, and severe dental malformations, which were consistent with the clinical features of OFCD syndrome. WES suggested that the proband and her induced fetus were suspected of having a large submicroscopic deletion of the exons of BCOR gene, which was confirmed by CMA, MLPA and Q-PCR, with a 105 kb deletion containing BCOR exons 1-15. The amniotic fluid genetic analysis of the present pregnancy showed that the fetus has a normal female karyotype, and did not carry the same BCOR gene copy number abnormality as the proband. The child grew and normally developed without any characteristic manifestations of OFCD syndrome during follow-up. Other families of the proband did not show clinical features of OFCD syndrone, and no BCOR gene copy number abnormality was detected. A total of 35 cases of BCOR gene mutation types related to OFCD syndrome were retrieved from ClinVar database. The data analysis revealed that the differences in clinical manifestations between Lenz microphthalmos syndrome and OFCD syndrome were mainly caused by different mutation types of BCOR gene. Among the 90 retrieved cases of OFCD syndrome obtained through literature, only one case was reported in China. Analysis of these 90 cases showed that the characteristic manifestations of OFCD syndrome, involving the eye, face, heart, teeth, and skeletal system. OFCD syndrome were confirmed in the proband and her induced fetus according to the clinical manifestation and the mutation type of BCOR gene. Conclusions:The clinical manifestations of OFCD syndrome are complicated, caused by various mutation types of BCOR. Systematic molecular genetic technology can be effectively applied for gene and prenatal diagnosis of OFCD syndrome.

OBJECTIVETo assess the association of cognitive impairment and clinical symptoms in first-episode schizophrenia with the Val66Met (rs6265) polymorphism of brain-derived neurotrophic factor (BDNF) gene.

METHODSFor 87 patients with first-episode schizophrenia and 76 healthy controls, the Val66Met polymorphism was determined with a Taqman Assay-on-Demand method. Wechsler intelligence test was carried out for all participants. Correlation of cognitive impairment with clinical severity was also analyzed.

RESULTSThe patients were significantly lower in total IQ, verbal IQ and performance IQ compared to the controls. The lower total IQ (F=4.59, P= 0.01) and verbal IQ (F=4.44, P=0.01) were influenced by genetic factors and diagnostic interaction. The vertal IQ of Val/Val patients was significantly lower than those of Val/Met and Met/Met carriers. For the control group, the verbal IQ of Met/Met carriers was lower than that of Val/Met carriers, and the total IQ of Met/Met carriers was lower than those of Val/Met and Val/Val carriers. For the patient group, the total IQ of Val/Val carriers was negatively correlated with positive symptoms (r=-0.65, P=0.03) and thought disorders (r=-0.61, P=0.02).

CONCLUSIONCognitive impairment in first-episode schizophrenic patients is associated with the Val66Met polymorphism of the BDNF gene, and has an important clinical relevance.

Adolescent ; Adult ; Brain-Derived Neurotrophic Factor ; genetics ; Case-Control Studies ; Cognitive Dysfunction ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; genetics ; Schizophrenia ; genetics ; Young Adult

OBJECTIVE: To assess the application value of noninvasive prenatal testing (NIPT) based on cell-free fetal DNA. METHODS: The results of 2777 cases of basic and extended NIPT were retrospectively analyzed. The clinical data and outcome of pregnancy were analyzed, in addition with the diagnosis rate and testing efficiency. RESULTS: Among the 2777 pregnant women, 1192 (42.9%) had accepted basic NIPT and 1585 (57.1%) accepted extended NIPT. With a failure rate of 0.1%, 8 and 6 cases were reported respectively as high-risk pregnancies for trisomy 21 and sex chromosomal abnormalities. Other genetic abnormalities were detected in 32 cases. The positive predictive value for trisomy 21 was 85.7%, and one case of 47,XXX was diagnosed among 3 women with high risks for sex chromosomal abnormalities. For those with a high risk for other genetic abnormalities, pregnant diagnosis rates of basic and extended NIPT were 71.4% (5/7) and 68.2% (15/22), respectively. Seven copy number variations (CNVs) were confirmed, including one pathogenic CNV, one likely pathogenic CNV and 5 variants of unknown significance. Among 6 cases with high-risk of maternal CNVs, 5 fetuses and the mothers were confirmed to be carriers. No CNV was detected in the remainder fetus by chromosomal microarray analysis, while its mother was a carrier of the corresponding CNV. CONCLUSION NIPT has shown a relatively high positive predictive value for the screening of trisomy 21 and maternal CNVs but with a limited efficiency for the discovery of fetal CNVs. For other genetic abnormalities signaled by NIPT, informed choice by the pregnant women during pre-testing consultation is recommended. Invasive prenatal diagnosis should be considered in the combination of NIPT reports and fetal ultrasound, while the residual risks should be fully informed.
Aneuploidy ; Cell-Free Nucleic Acids/genetics* ; DNA/genetics* ; DNA Copy Number Variations ; Female ; Fetus ; Humans ; Noninvasive Prenatal Testing ; Pregnancy ; Retrospective Studies

Precise biomarker development is a key step in disease management. However, most of the published biomarkers were derived from a relatively small number of samples with supervised approaches. Recent advances in unsupervised machine learning promise to leverage very large data-sets for making better predictions of disease biomarkers. Denoising autoencoder (DA) is one of the unsupervised deep learning algorithms, which is a stochastic version of autoencoder techniques. The principle of DA is to force the hidden layer of autoencoder to capture more robust features by reconstructing a clean input from a corrupted one. Here, a DA model was applied to analyze inte-grated transcriptomic data from 13 published lung cancer studies, which consisted of 1916 human lung tissue samples. Using DA, we discovered a molecular signature composed of multiple genes for lung adenocarcinoma (ADC). In independent validation cohorts, the proposed molecular signature is proved to be an effective classifier for lung cancer histological subtypes. Also, this signature suc-cessfully predicts clinical outcome in lung ADC, which is independent of traditional prognostic fac-tors. More importantly, this signature exhibits a superior prognostic power compared with the other published prognostic genes. Our study suggests that unsupervised learning is helpful for bio-marker development in the era of precision medicine.

Objective To investigate the significance of whole mount sections after radical prostatectomy in the diagnosis of prostate cancer.Methods The data of 210 patients with radical prostatectomy in the Department of Urology of Northern Jiangsu People's Hospital from April 2018 to July 2015 were collected,of which 150 cases (control group) were examined with routine tissue section examination and 60 cases (study group) were examined with whole mount sections.The age of the study group and the control group were (69.0 ± 5.0) years and (70.0 ± 7.0) years respectively,and PSA was (18.8 ± 2.5) ng/ml and (19.3 ± 2.1) ng/ml respectively.The BMI of the study group was (23.0 ± 1.2) kg/m2,and the control group was (22.8 ± 0.6) kg/m2.The preoperative Gleason score of the study group and the control group were 7.9 ±0.9 and 7.7 ± 1.6 respectively.There were 137 patients (91.3％) with clinical stage cT1-T2 and 13 patients with cT3(8.7％) in control group.In the study group,there were 51 cases (85.0％) with clinical stage cT1-T2,and 9 cases with cT3 (15.0％).There was no significant difference between the two groups (P ＞ 0.05) in term of the patients' demographics.The postoperative Gleason score,positive surgical margin,seminal vesicle invasion lymph node metastasis and pathological stage were compared between the two groups.Results The median prostate volume of the study group was 45.2 (18.3-121.5) ml,and 47.1 (2 1.3-124.2) ml in the control group.The operation time of the study group was 138.2 (119.5-234.1) mins,and 133.5 (116.8-228.2) mins in the control group.In the control group,there were 8 cases(5.3％) with seminal vesicle invasion,and 8 cases (5.3％) with lymph node metastasis.The pathological stages were pT2-T3 in 145 cases(96.7％),and pT4 in 5 cases (3.3％) in control group.The postoperative Gleason score was 8.0 ± 0.9 in control group.In the study group,17 patients (28.3％) with seminal vesicle invasion were pathologically indicated,and there were 6 patients (10.0％) with lymph node metastasis.The pathological stages were pT2-T3 of 57 cases(95.0％),and pT4 of 3 cases (5.0％),postoperative Gleason score was 7.7 ± 1.0 in study group.There was no statistically significant difference in seminal vesicle invasion,lymph node metastasis,pathological stage and postoperative Gleason score between the two groups (P ＞ 0.05).There were 23 patients (15.3％) with positive margins in the control group,and 28 patients(46.7％) in the study group,which showed significant difference (P ＜0.01).For small lesions,there were 7 cases (4.7％) and 22 cases (36.7％) in the control group and the study group,respectively,which showed significant difference (P ＜ 0.01).There were 17 cases (28.3％) of increased Gleason score in the study group,while 31 cases (20.7％) in the control group,with no statistical difference (P =0.232).Conclusions The whole mount section technique can effectively improve the positive surgical margin and the small lesions detection rate in the pathological evaluation of radical prostatectomy,and provide a precise pathological diagnosis for the postoperative treatment and follow-up of the patients.

Circular RNA (circRNA) is a novel class of single-stranded RNAs with a closed loop structure. The majority of circRNAs are formed by a back-splicing process in pre-mRNA splicing. Their expression is dynamically regulated and shows spatiotemporal patterns among cell types, tissues and developmental stages. CircRNAs have important biological functions in many physiological processes, and their aberrant expression is implicated in many human diseases. Due to their high stability, circRNAs are becoming promising biomarkers in many human diseases, such as cardiovascular diseases, autoimmune diseases and human cancers. In this review, we focus on the translational potential of using human blood circRNAs as liquid biopsy biomarkers for human diseases. We highlight their abundant expression, essential biological functions and significant correlations to human diseases in various components of peripheral blood, including whole blood, blood cells and extracellular vesicles. In addition, we summarize the current knowledge of blood circRNA biomarkers for disease diagnosis or prognosis.
Autoimmune Diseases/blood* ; Biomarkers, Tumor/blood* ; Cardiovascular Diseases/blood* ; Humans ; Liquid Biopsy ; Neoplasms/blood* ; RNA, Circular/blood* ; RNA, Neoplasm/blood*

Differential diagnosis of benign and malignant ground glass nodule (GGN) is of great significance to the early detection, diagnosis and treatment of lung cancer. Increasing attention has been paid to radiomics technology application in early diagnosis of benign and malignant GGN, which can analyze the characteristic appearances of GGN in non-invasive manner. This article reviews the latest research progress of radiomics in the diagnosis of GGN.

Ankle Injuries ; Fractures, Compression ; Humans ; Knee Injuries