[A case of 2q37 deletion syndrome related ophthalmo facial malformation].

A child complained of bilateral congenital non-progressive ptosis for 18 months. According to the clinical characteristics, systemic development and chromosome microarray analysis, the child was diagnosed as 2q37 deletion syndrome related ophthalmo facial malformation. The patient underwent the frontalis aponeurosis flap suspension. After operation, the appearance of eyelids was significantly improved.

[Problems and thoughts of preserving femoral head treatment of osteonecrosis of femoral head].

By literature review and experience summary, some problems are found in conservative treatment of osteonecrosis of femoral head(ONFH): lacking in researches of natural history of ONFH, disunion in classfication and the standard of outcome evaluation, lacking in high-level-evidence study and standard of treatment methods. It is necessary to improve the study on natural history of ONFH, unify the classfications and the standard of outcome evaluations, normalize the treatment methods, and design impeccable multi-centre study for improving the effect of conservative treatment of ONFH.

[Relative factors and follow up research of asymptomatic osteonecrosis of the femoral head].

Objective: To evaluate the progress and influence factors of asymptomatic osteonecrosis of the femoral head(ONFH). Methods: MRI was performed on the contralateral hips of 174 patients with unilateral symptomatic ONFH who admitted at Department of Orthopaedics, the Second Affiliated Hospital of Xi'an Jiaotong University from January 2012 to December 2018. Eighty-three of 174 patients with unilateral ONFH were found suffering from contralateral ONFH(47.7%), of which 77 patients were followed up.There were 28 males and 49 females with age of 48.6 years (range: 21-73 years). The pathogenesis, ARCO classfication, areas and position of osteonecrosis were collected.Independent sample t test, χ(2) test, Fisher exact test, multivariate Logistic regression were used to analyze the potential influence factors. Results: Patients were followed up for 36.7 months. During the following up period, ARCO classification of 28 patients (36.4%) progressed.The progress of asymptomatic ONFH was not related to the gender, age and original ARCO classification, but related to the pathogenesis, position and area of osteonecrosis (all P<0.05). Conclusion: The progress of asymptomatic osteonecrosis is related to the pathogenesis, position and area of osteonecrosis,but most of asymptomatic ONFH will not progress.

Identification of significant pathway cross-talk in rheumatoid arthritis by the Monte Carlo cross-validation method.

We attempted to identify significant pathway cross-talk in rheumatoid arthritis (RA) by the Monte Carlo cross-validation (MCCV) method. We therefore obtained and preprocessed the gene expression profile of RA. MCCV involves identifying differentially expressed genes (DEGs), identifying differential pathways (DPs), calculating the discriminating score (DS) of the pathway cross-talk, and random forest (RF) classification. We carried out 50 bootstrap iterations of MCCV to identify the key instances of pathway cross-talk involved in RA. We identified a total of 17 significant DEGs and 15 significant DPs by comparing RA samples and normal controls. We found the most significant difference between RA and the normal controls in the eIF4 and p70S6K signaling regulation pathway. Furthermore, we identified 10 instances of pathway cross-talk with the best classification performance for RA and normal controls, using the RF classification model. All of the top 10 pathway pairs involved cross-talk with eIF4 and p70S6K signaling regulation, and the other 10 pathways were immune-related. By MCCV, we identified one critical DP and 10 significant instances of pathway cross-talk in RA. We propose that the eIF4 and p70S6K signaling regulation pathway and the other significant instances of pathway cross-talk play key roles in the occurrence and development of RA, and are potential predictive and prognostic markers for RA.

Esophagus cancer and occupational exposure to asbestos: results from a meta-analysis of epidemiology studies.

The relationship between occupational asbestos exposure and esophagus cancer (EC) is not fully understood. We performed a meta-analysis to quantitatively assess the association. We systematically searched databases of PubMed, EMBASE, and Web of Science for studies with quantitative estimates of asbestos exposure and EC mortality. Pooled standardized mortality ratios (SMRs) and their corresponding 95% confidence intervals (CIs) were calculated. Twenty cohort studies on EC and asbestos exposure were included in this meta-analysis. Overall, occupational exposure to asbestos was associated with an excess risk of EC (SMR = 1.24, 95% CI: 1.13-1.38, P < 0.001), with little evidence of heterogeneity among studies (I(2) = 0.0%, P = 0.682). Being male, exposure to chrysotile or mixed asbestos, working at textile industry, long study follow-up (≥20 years), Asia, Europe and America cohorts with larger cohort size (>500), and high-exposure group all contribute to significantly higher SMR. Publication bias was not detected (Egger's test P-value = 0.374). This meta-analysis suggested that occupational asbestos exposure might be associated with an increased risk of EC in male. High-exposure level of asbestos could contribute to significantly higher risk of EC mortality.

Molecular characterization of the myosatin gene and the effect of fasting on its expression in Chinese perch (Siniperca chuatsi).

Myostatin (MSTN) is an important member of the transforming growth factor-ß (TGF-ß) superfamily and is a muscle growth inhibitor. In the present study, we cloned the Chinese perch MSTN cDNA sequence and analyzed its expression patterns under various conditions. The MSTN full cDNA sequence was 3347 bp long, including an open-reading frame of 1131 bp, which encoded 376 amino acids. Sequence analysis demonstrated that the MSTN shared a highly conserved signal peptide, a TGF-ß functional peptide, a hydrolytic site (RARR), and nine conservative cysteine residues with other members of the TGF-ß superfamily. Sequence alignment and phylogenetic tree analyses indicated that the MSTN had a close relationship with teleostean fish, but they are far separated from mammals. Real-time polymerase chain reaction analysis revealed that the MSTN was strongly expressed in the skeletal muscle and heart tissues. Temporal expression analysis demonstrated that the MSTN gene was expressed in very low levels, from 20 to 90 dph (post-hatching development), and was at its highest level at 150 dph (P < 0.05). The fasting-re-feeding experiment showed that the expression of the MSTN gene was initially decreased in response to a single meal, after seven days of fasting, and subsequently increased significantly, and finally decreased back to its original level. Together, our results provided valuable knowledge regarding the regulation of MSTN gene expression in Chinese perch.

Study on the safe range of shortening of the spinal cord in canine models.

STUDY DESIGN: Experimental dog model of spinal cord shortening. OBJECTIVES: To clarify the relationship between the amount of shortening of the spinal cord and the degree of injury it may induce, and to determine the safe range of the shortening. SETTING: Xi'an Jiaotong University, China. METHODS: Thirty adult dogs were randomly allocated to five groups. Dogs in Group A (sham operation control) underwent spondylectomy to have two-thirds of the thirteenth thoracic segment (T13) resected, without bone-to-bone contact of the adjacent vertebral bodies. Those in Group B, C, D and E had one-third, half, two-thirds and total of their T13 resected, respectively, with bone-to-bone contact. Somatosensory-evoked potentials (SEP) and spinal cord blood flow (SCBF) were detected. The histopathologic changes of spinal cord tissue were observed by hematoxylin and eosin stain and electron microscope. RESULTS: The shortening of the spinal cord < half of a vertebral segment height caused a reversible change of SEP. Whereas, the changes resulted from the shortening of more than two-thirds of a vertebral segment height did not return to the normal level. SCBF increased temporarily when the shortening was within two-thirds of a vertebral segment height; whereas, it decreased progressively when the length of the shortening was equal to one vertebral segment height. More serious hemorrhage occurred as the shortening increased. CONCLUSION: Shortening of half of a vertebral segment height will not induce spinal cord injury (SCI), while that between half and two-thirds of a vertebral segment may lead to incomplete SCI.