[Polymorphism and Forensic Application of 11 Y-SNP in Guizhou Shui Ethnic Group].

ABSTRACT: Objective To investigate the frequency distribution features of 11 Y-SNP of Guizhou Shui ethnic group, explore its genetic relationship with other ethnic groups and evaluate its forensic application value. Methods Multiplex amplification of the 11 Y-SNP of samples of 180 unrelated male individuals from Guizhou Shui ethnic group was performed with microsequencing technique. The frequency of haplogroup was calculated by direct counting method, and principal component analysis （PCA） of Guizhou Shui ethnic group and reference ethnic groups was performed by using Multi-variate statistical package （MVSP）. The Fst genetic distance between Guizhou Shui ethnic group and other ethnic groups was calculated with Arlequin v3.5. The phylogenetic tree was established with MEGA 4.0 software according to the Fst value. Results Six types of Y chromosome haplogroups were observed in total. Among which, the distribution frequency of O-M175 haplogroup was the highest （71.11%）, followed by C-M130 （25.00%）, and D-M174 （3.89%）. O1b-M268 （31.11%） and O2a2-IMS-JST021354 （28.33%） had a relatively high distribution frequency in O haplogroup. The paternal relationship between Guizhou Shui ethnic group and Guizhou Gelao ethnic group in the same language group was the closest. Conclusion The distribution of Y-SNP haplogroup of the Shui ethnic group in Guizhou has certain specificity, which can provide basic data for forensic biogeographic inference.

Corrigendum to "A Gene Module-Based eQTL Analysis Prioritizing Disease Genes and Pathways in Kidney Cancer".

[This corrects the article DOI: 10.1016/j.csbj.2017.09.003.].

Protective Effects of an Obesity-Associated Polymorphism (CDKAL1 rs9356744) on Prediabetes: The Cardiometabolic Risk in Chinese (CRC) Study.

BACKGROUND: Obesity is strongly associated with insulin resistance and elevated plasma glucose levels. The rs9356744 polymorphism in the CDKAL1 gene is associated with body mass index (BMI) only in East Asians. Here, we examined the effect of the rs9356744 polymorphism on glucose-related traits and prediabetes in Chinese adults. METHODS: A total of 2 357 participants were enrolled from the Cardiometabolic Risk in Chinese (CRC) Study, including 499 persons with prediabetes, 204 persons with type 2 diabetes, and 1 654 normoglycemic controls. The rs9356744 polymorphism in CDKAL1 was genotyped and analyzed in all participants. RESULTS: Despite the positive relationship between obesity and glucose traits, the T allele of rs9356744, which is associated with a predisposition to obesity, was correlated with lower levels of 2-h oral glucose tolerance test (OGTT) plasma glucose (2hPG) (ß=- 0.2104 and P=0.0233), glycated hemoglobin (HbA1c) (ß=- 0.0551 and P=0.0298) and higher levels of homeostasis model of assessment ß-cell function (HOMA-B) (ß=5.282 and P=0.0424). After further adjustment for BMI, the levels of HOMA-B maintained a similar increased trend across rs9356744 genotype (ß=3.277 and P=0.1958). In stratified analyses, the associations of rs9356744 with 2hPG and HbA1c were significant for individuals with a low BMI. Moreover, an antagonism action of BMI and rs9356744 on 2hPG (P for interaction=0.0055) was observed. In addition, we found a protective effect of rs9356744 on prediabetes. CONCLUSIONS: The CDKAL1 rs9356744 T allele associated with a predisposition to obesity showed a protective effect on HbA1c, 2hPG, and prediabetes. BMI was mediator of the association between the genetic variant and HbA1c, 2hPG, and prediabetes.

Serum uric acid and non-alcoholic fatty liver disease in non-hypertensive Chinese adults: the Cardiometabolic Risk in Chinese (CRC) study.

OBJECTIVE: The causal relationship between serum uric acid (SUA) level and non-alcoholic fatty liver disease (NAFLD) has not yet been clarified. The objective of the study was to determine the association between SUA and NAFLD, as well as assess the interactions between SUA and other metabolic risk factors regarding NAFLD. PATIENTS AND METHODS: The study samples related to a community-based health examination survey conducted in Central China. Initially, a total of 24,878 patients with medical examination were included. After excluding the individuals with confounding factors, the remaining 21,798 subjects with biomarkers available were included in the present study. RESULTS: The data show that the risk of NAFLD significantly increased with the elevated SUA levels. Further adjustments for sex, age, and other confounding metabolic factors did not change the increasing trend of NAFLD risk. The odds ratios [ORs, 95% confidence interval (CI)] of NAFLD across the increasing quintiles of SUA were 1.00, 1,530 (1.174-1.995), 2.24 (1.714-2.886), 2.636 (2.019-3.441), and 3.714 (2.828-4.877) (p for trend < 0.0001). Also, significant interaction was found between SUA and prehypertension in relation to the NAFLD risk (p for interaction < 0.05). CONCLUSIONS: SUA was significantly associated with NAFLD risk, independent of other metabolic risk factors, and SUA also had significant interaction with prehypertension regarding the risk of NAFLD.

Repeated immunotherapy using intratumoural injection with recombinant interleukin-2 and tumour-infiltrating lymphocytes inhibits growth of breast cancer and induces apoptosis of tumour cells.

This study tested the effect of repeated intratumoural injection with recombinant interleukin-2 (rIL-2) and tumour-infiltrating lymphocytes (TILs) on inhibition of growth of breast cancer and on induction of apoptosis of tumour cells. The tumour cell line LDLX43 was used to induce breast cancer in Wistar rats. Group I (10 rats) was the control. Group II (12 rats) received repeated intratumoural injection with rIL-2 and TILs. rIL-2 at the dose of 5 x 10(5) IU/day was given for 7 days, and 1 x 10(7) TILs were injected on the second day of each rIL-2 therapy, for a treatment session. Overall, two treatment sessions of immunotherapy with rIL-2 and TILs were given in all treated animals. Rapid increased tumour volume was found in the control group. In the treated group the total response rate was 42%, of which 25% tumours showed partial regression and 17% tumours reached complete remission where infiltration of plenty of T lymphocytes was detected, indicating that T cell-mediated antitumour immunity is primarily responsible for tumour rejection. Further investigation showed the repeated immunotherapy using intratumoural injection with rIL-2 and TILs could induce the development of apoptosis of breast cancer cells.

Differences in molar absorptivity of 4-NP with the reaction solution and apparatus affect ALP measurement.

We examined the differences in molar absorptivity of 4-NP obtained using different kits for ALP measurement and different instruments. The apparent molar absorptivity of 4-NP in the same reaction solution determined by six different instruments was 15.98, 16.72, 16.06, 17.00, 16.27, 17.62 and that using four different reaction solution kits for ALP with the same instrument was 16.90, 17.38, 17.72, 16.11. We measured ALP in three serum samples with six instruments using the same kit and in twelve serum samples with the same instrument using four kits. ALP activities measured using the same molar absorptivity value differed with the instrument(p < 0.01). However, those measured using the apparent molar absorptivity value for each instrument revealed no significant differences(p > 0.05). In conclusion, we suggest that standard material should be contained in each kit for enzyme measurement and the apparent epsilon for each kit and instrument should be obtained to minimize the systematic error caused by using the same epsilon in different laboratories.

Therapeutic efficacy of topical application of dexamethasone to the round window niche after acoustic trauma caused by intensive impulse noise in guinea pigs.

OBJECTIVE: To assess the therapeutic efficacy of dexamethasone administered topically to the round window niche, following acoustic trauma induced by intensive impulse noise, in guinea pigs. METHODS: Adult, male, albino guinea pigs with a normal Preyer's reflex were exposed to 80 impulse noises (peak value 167 dB, duration 0.5 ms, interval 2 s). Dexamethasone (40 mg/ml) or saline was then topically applied to the round window niche. Each animal's auditory brainstem response was measured before and one day after exposure, and three weeks after topical treatment. Cochlear morphology was examined to assess hair cell loss and spiral ganglion cell damage. To assess oxidative activity, cochlear malondialdehyde and superoxide dismutase concentrations were determined three weeks post-treatment. Following topical application, the pharmacokinetic characteristics of dexamethasone in cochlear perilymph were analysed using high-performance liquid chromatography. RESULTS: Animals receiving dexamethasone showed reduced noise-induced outer hair cell loss (three weeks post-treatment), and significant attenuation of noise-induced auditory brainstem response threshold shifts (one day post-exposure and three weeks post-treatment), compared with controls. There was no difference in spiral ganglion morphology. Animals receiving dexamethasone also showed a significantly lower malondialdehyde concentration and a higher superoxide dismutase concentration, post-exposure. Following topical application, the perilymph dexamethasone level peaked at 5330.522 µg/ml (15 minutes post-treatment), and was 299.797 µg/ml 360 minutes later. CONCLUSION: Topical application of dexamethasone to the round window niche has protective effects against intensive impulse noise induced trauma in the guinea pig cochlea. This drug can diffuse into the inner ear through the round window membrane and persist in the perilymph for a relatively long period. The mechanism of protection may involve an anti-oxidant effect.

Scanning electron microscopy of human esophageal mucosa in patients with carcinoma of the esophagus.

Specimens taken at surgery from 15 patients with carcinoma of the esophagus were examined with scanning electron microscopy. Nine patients were treated with chemotherapy (cisplatin + 5-fluorouracil), surgery and radiotherapy; one received preoperative radiotherapy only; and the remaining five primary surgery only. Scanning electron microscopy was performed on specimens of both tumor tissue and the mucosa at least 5 cm from the tumor. In adjacent non-tumor tissue, damage due to treatment was observed in the form of changes in microridges and increased cell loss. In tumor tissue, the degree of damage was correlated to tumor response to treatment. For patients with no residual tumor after treatment, the ultrastructure was normalized with a low tumor score, while for patients with residual tumor, the score was high.

The effect of ionizing irradiation on type I collagen of the tail in growing mice: a histology and electron microscopy study.

In order to examine the effect of radiation on growing tissue, especially the fibroblasts and their end-product, the collagen fibres, tails from 24 mice were irradiated at an age of 8 days with 20 Gy and 30 Gy (60Co). Tails from 18 animals served as controls. Six mice from each group were sacrificed on day 8, 20 and 30. Transmission electron microscopy was used to examine the fibroblasts and the collagen fibrils. Non-irradiated fibroblasts had a nucleus rich in chromatin and an abundant endoplasmic reticulum with cisternae and condensing vacuoles. On day 20, approximately 50%, and on day 30, 25% of the fibroblasts irradiated with 30 Gy had a sparse endoplasmic reticulum pointing to a reduction of protein synthesis. While, on day 20, the fibrils irradiated with 20 Gy and with 30 Gy had significantly larger diameters compared to the controls, on day 30, the irradiated fibrils had a notably smaller diameter compared to the controls; 30 Gy-fibrils were larger than the 20 Gy-fibrils on both days. On day 20, the binding mean value of the 30 Gy-fibrils exceeded that of the controls and was significantly higher than that of the 20 Gy-fibrils, which was lower, though not significantly, than the controls. On day 30, the banding mean value of the 30 Gy-fibrils was notably lower than the control; and the value of the 20 Gy-fibrils was significantly lower than that of the 30 Gy-fibrils. The results are explained as an edema together with an inhibitory effect on the protein synthesis of the fibroblasts caused by the irradiation. This deduction is further supported by light microscopy of the tails.

Ischemic contracture begins when anaerobic glycolysis stops: a 31P-NMR study of isolated rat hearts.

The relationships among myocardial ATP, intracellular pH, and ischemic contracture in Langendorff-perfused rat hearts were investigated by 31P nuclear magnetic resonance spectroscopy during total global normothermic ischemia while the left ventricular pressure was recorded continuously via an intraventricular balloon. Glucose-perfused hearts (n = 63) were divided into five groups based on the time of onset of contracture (TOC), and three other groups of hearts were treated to vary the ischemic glycogen availability. ATP levels, which showed no evidence of accelerated ATP depletion during contracture, were significant and variable at TOC. Intracellular pH initially declined and then leveled off at TOC, with lower final pH in hearts with later TOC. We conclude that contracture began when anaerobic glycolysis (and thus glycolytic ATP synthesis) stopped. These results, though consistent with the concept that ischemic contracture in normal hearts results from rigor bond formation due to low ATP levels at the myofibrils, suggest that TOC is more closely related to glycolytic ATP production than to total cellular ATP content, thus providing evidence of some degree of subcellular compartmentation or metabolite channeling. In glycolytically inhibited hearts, the quite early contracture may have a Ca2+ component.