Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study

The serological examination results. (DOCX 13 kb

Factors Predicting Survival in Patients with Proximal Gastric Carcinoma Involving the Esophagus

AIM: To investigate the clinicopathologic features which predict surgical overall survival in patients with proximal gastric carcinoma involving the esophagus (PGCE). METHODS: Electronic pathology database established in the Department of Pathology of the Nanjing Drum Tower Hospital was searched for consecutive resection cases of proximal gastric carcinoma over the period from May 2004 through July 2009. Each retrieved pathology report was reviewed and the cases with tumors crossing the gastroesophageal junction line were selected as PGCE. Each tumor was re-staged, following the guidelines on esophageal adenocarcinoma, according to the 7th edition of the American Joint Commission on Cancer Staging Manual. All histology slides were studied along with the pathology report for a retrospective analysis of 13 clinicopathologic features, i.e., age, gender, Helicobacter pylori (H. pylori) infection, surgical modality, Siewert type, tumor Bormann's type, size, differentiation, histology type, surgical margin, lymphovascular and perineural invasion, and pathologic stage in relation to survival after surgical resection. Prognostic factors for overall survival were assessed with uni- and multi-variate analyses. RESULTS: Patients' mean age was 65 years (range: 47-90 years). The male: female ratio was 3.3. The 1-, 3- and 5-year overall survival rates were 87%, 61% and 32%, respectively. By univariate analysis, age, male gender, H. pylori, tumor Bormann's type, size, histology type, surgical modality, positive surgical margin, lymphovascular invasion, and pT stage were not predictive for overall survival; in contrast, perineural invasion (P = 0.003), poor differentiation (P = 0.0003), > 15 total lymph nodes retrieved (P = 0.008), positive lymph nodes (P = 0.001), and distant metastasis (P = 0.005) predicted poor post-operative overall survival. Celiac axis nodal metastasis was associated with significantly worse overall survival (P = 0.007). By multivariate analysis, ≥ 16 positive nodes (P = 0.018), lymph node ratio > 0.2 (P = 0.003), and overall pathologic stage (P = 0.002) were independent predictors for poor overall survival after resection. CONCLUSION: Patients with PGCE showed worse overall survival in elderly, high nodal burden and advanced pathologic stage. This cancer may be more accurately staged as gastric, than esophageal, cancer

Astragalus polysaccharide relieves reproductive toxicity in phenobarbital-treated epileptic rats

Purpose: To investigate the underlying mechanisms by which Astragalus  polysaccharide (APS) relieves the reproductive toxicity induced by phenobarbital (PB) treatment in epileptic rats.Methods: Terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) assay kits were used to quantify cell apoptosis in an epileptic rat model. The weight of sex organs and levels of three reproductive hormones, viz, follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone, were measured in order to evaluate the effect of APS administration on reproductive ability. Concentration, motility, morphology as well as fertilization rate of sperms were analyzed as well.Results: Increase in sex organ weight and decrease in apoptosis were both  associated with oral APS treatment. In APS-treated group, FSH, LH, and  testosterone levels were raised while concentration, motility and normal morphology of sperm also increased. This was consistent with the observed increase in fertilization rate. In addition, hematoxylin and eosin (HE) staining of the testis was performed in the epileptic rat model showed that the size of cell lumen increased in APS-treated group. All APSassociated phenotypes occurred in a concentration-dependent manner.Conclusion: These data suggest that APS lowers reproductive toxicity in PB-treated epileptic rats by regulating the reproductive hormones, FSH, LH and testosterone, and also by altering the concentration, motility, and morphology of sperm. Thus, APS has a potential treatment for minimizing the side effects of antiepileptic drugs.Keywords: Astragalus polysaccharide, Reproductive toxicity, Phenobarbital,  Epileptic rat

Quasi-Projection for a class of uninorms (2-uninorms)

summary:In 2021, Jayaram et al. demonstrated that a property called Quasi-Projectivity $(QP)$ is a necessary condition for Clifford's relation to produce a partial order. Furthermore, their research revealed that although all triangular norms and triangular conorms satisfy $(QP)$ and thus can generate posets, their generalized operator, uninorms, does not always possess this property, resulting in not all uninorms being able to generate a poset. In this work, we first investigate the satisfaction of $(QP)$ for uninorms with continuous underlying operators, concluding that such uninorms are capable of yielding partial orders if and only if they are locally internal in $A(e)$, and the resulting partially ordered set is a chain. Based on this, we further explore the performance of inducing partial orders within the framework of 2-uninorms, and the results show that it is entirely determined by the underlying uninorms

Interaction between Maternal Passive Smoking during Pregnancy and CYP1A1 and GSTs Polymorphisms on Spontaneous Preterm Delivery

Objective: The present study aimed to examine the association between maternal passive smoking during pregnancy and the risk of spontaneous PTD and to explore the potential interaction of the single or joint gene polymorphism of CYP1A1 and GSTs with maternal passive smoking on the risk of spontaneous PTD. Method: We investigated whether the association between maternal passive smoking and PTD can be modified by 2 metabolic genes, i.e. cytochrome P4501A1 (CYP1A1) and glutathione S-transferases (GSTs), in a case-control study with 198 spontaneous preterm and 524 term deliveries in Shenzhen and Foshan, China. We used logistic regression to test gene-passive smoking interaction, adjusting for maternal socio-demographics and prepregnancy body mass index. Results: Overall, maternal passive smoking during pregnancy was associated with higher risk of PTD (adjusted odds ratio = 2.20 [95% confidence interval: 1.56–3.12]). This association was modified by CYP1A1 and GSTs together, but not by any single genotype. For cross-categories of CYP1A1 Msp I and GSTs, maternal passive smoking was associated with higher risk of PTD among those women with CYP1A1 “TC/CC”+ GSTs “null”, but not among women with other genotypes; and this interaction was significant (OR = 2.66 [95% CI: 1.19–5.97]; P-value: 0.017). For cross-categories of CYP1A1 BsrD I and GSTs, maternal passive smoking was associated with higher risk of PTD only among those women with CYP1A1“AG/GG”+ GSTs “null”, but not among women with other genotypes; and this interaction was significant (OR = 3.00 [95% CI: 1.17–7.74]; P-value: 0.023). Conclusions: Our findings suggest that the combined genotypes of CYP1A1 and GSTs can help to identify vulnerable pregnant women who are subject to high risk of spontaneous PTD due to passive smoking

The CDEX-1 1 kg Point-Contact Germanium Detector for Low Mass Dark Matter Searches

The CDEX Collaboration has been established for direct detection of light dark matter particles, using ultra-low energy threshold p-type point-contact germanium detectors, in China JinPing underground Laboratory (CJPL). The first 1 kg point-contact germanium detector with a sub-keV energy threshold has been tested in a passive shielding system located in CJPL. The outputs from both the point-contact p+ electrode and the outside n+ electrode make it possible to scan the lower energy range of less than 1 keV and at the same time to detect the higher energy range up to 3 MeV. The outputs from both p+ and n+ electrode may also provide a more powerful method for signal discrimination for dark matter experiment. Some key parameters, including energy resolution, dead time, decay times of internal X-rays, and system stability, have been tested and measured. The results show that the 1 kg point-contact germanium detector, together with its shielding system and electronics, can run smoothly with good performances. This detector system will be deployed for dark matter search experiments.Comment: 6 pages, 8 figure

A simulation study on the measurement of D0-D0bar mixing parameter y at BES-III

We established a method on measuring the \dzdzb mixing parameter $y$ for BESIII experiment at the BEPCII $e^+e^-$ collider. In this method, the doubly tagged $\psi(3770) \to D^0 \overline{D^0}$ events, with one $D$ decays to CP-eigenstates and the other $D$ decays semileptonically, are used to reconstruct the signals. Since this analysis requires good $e/\pi$ separation, a likelihood approach, which combines the $dE/dx$, time of flight and the electromagnetic shower detectors information, is used for particle identification. We estimate the sensitivity of the measurement of $y$ to be 0.007 based on a $20fb^{-1}$ fully simulated MC sample.Comment: 6 pages, 7 figure