[Screening results and genetic analysis of neonatal tetrahydrobiopterin deficiency in Hainan Province from 2007 to 2019].

A total of 1 295 516 dried blood spots were collected from newborns in Hainan Province from 2007 to 2019 who participated in the screening of neonatal diseases, and 43 cases of hyperphenylalaninemia were diagnosed. Among the 43 cases, 8 cases were confirmed to have tetrahydrobiopterin deficiency (4 males and 4 females). The incidence of tetrahydrobiopterin deficiency among newborns in Hainan Province was 6.2/1 million. Six mutations in the PTS gene were detected among 7 cases; the mutations were as follows: c.317C>T, c.286G>A, c.259C>T, c.155A>G, c.84+291A>G and c.83+1777T>G. A homozygous mutation at c.41T>C site of QDPR gene was detected in one case. Overall, it's found that the incidence of tetrahydrobiopterin deficiency in newborn populations in Hainan Province is low, and PTS gene mutations account for the largest proportion of cases of tetrahydrobiopterin deficiency within the study population.

[Application of multiple exposure assessment methods in occupational health risk assessment of trichloroethylene in electroplating enterprises].

Objective: To explore the applicability of different exposure assessment methods in occupational health risk assessment of trichloroethylene (TCE) occupation posts in electroplating enterprise. Methods: In November 2018, the occupational health risk assessments are conducted in trichloroethylene (TCE) occupation posts of 6 metal plating enterprises in a street in Shenzhen by using the qualitative risk assessment, semi-quantitative risk assessment (including contact ratio method, contact index method and synthesis index method) and quantitative risk assessment method (including non-carcinogenic and carcinogenic risk assessment methods) , and the results of different methods are compared. Results: The results of qualitative assessment method are all level 4 (high risk) ; the results of contact ratio method show that the risk level is level 5 (very high risk) ; the results of contact index method and Synthesis index method show that the risk level is level 3 and level 4, 66.7% and 33.3% respectively; Non-carcinogenic risk assessment results show that TCE jobs are "unacceptable"; carcinogenic risk assessment results in carcinogenic inhalation excess risk of 50% each being "unacceptable" and "acceptable". The results of the six risk assessment methods showed that there were 3 "substantially consistent", 1 "partially consistent", and 2 "inconsistent" among the 6 companies. Conclusion: Synthesis index method and the carcinogenic risk assessment method are more suitable for occupational health risks of TCE occupation posts.

[Screening of phenylketonuria and analysis of phenylalanine hydroxylase gene in 380 996 newborns from Hainan province].

Objective: To investigate the incidence of phenylketonuria and distribution characteristics of phenylalanine hydroxylase (PAH) gene in newborns from Hainan province. Methods: Dry blood spot specimens of heels from 380 996 newborns in Hainan province from January 2017 to December 2019 were collected. Phenylalanine (Phe) concentrations in these dry blood spots were measured by the fluorescence method to screen phenylketonuria (PKU). A second dry blood spot sample will be collected if suspicious samples were detected after initial screening. Tandem mass spectrometry were used to detect the concentrations of Phe and tyrosine. Urine samples of the suspected newborns were sent out for urotrexate spectrum analysis and tetrahydrobiopterin loading test. PCR and flow-through rapid hybridization method were employed to detect PAH gene mutations. Meanwhile, peripheral blood samples of suspicious newborns of PKU and their parents were collected to perform gene sequencing. Results: Among the 380 996 newborns, 39 were suspected and 14 were diagnosed with PKU, including 11 cases of PAH deficiency and 3 cases of tetrahydrobiopterin deficiency. Of 14 confirmed cases, there were 8 male cases and 6 female cases. In the newborn population of Hainan province, the annual incidence of PKU was 1.22/100 000. Thirteen PAH gene mutations were detected in confirmed cases: c.728G>A, c.158G>A, c.1238G>C, c.611A>G, c.1068C>A, c.706+5G>A, c.740G>T, c.1081A>T, c.793T>G, c.1223G>A, c.721C>T, c.331C>T and c.1174T>A. Conclusions: PKU has a high incidence in newborn population of Hainan province in the past three years. The PAH gene has a wide spectrum of mutations. Two rare mutations were also found: c.793T>G and c.706+5G>A.

Robust estimation of sediment sound speed from the group speed of the critical mode.

In the ocean waveguide, the sediment sound speed has a simple relationship with the group speed of the highest order mode that propagates close to the critical angle. The paper shows that robust estimates of the sound speed are obtained from estimates of the "critical" mode group speed determined from analysis of the energy distribution of the time-warped spectrum of a broadband signal. The method is applied to experimental data collected in the Yellow Sea of China. Estimated sound speeds agreed closely with expected values for clayey slit (1531 m/s) and sandy silt (1593 m/s) sediment at the sites.

How the thermocline affects the value of the waveguide invariant in a shallow-water waveguide.

On the basis of the principle of stationary phase, Chuprov [Ocean Acoustics: Current State (Nauka, Moscow, 1982)] proposed a scalar parameter-the waveguide invariant ß, to interpret the dispersive properties of underwater acoustic waveguide. It has been found that ß may be useful in many applications in underwater acoustics. A reasonable prediction of the value of ß is often necessary in such applications. It was known that ß has some "canonical" values for waveguides with simple sound speed profiles (SSP). When a thermocline exists, ß for refractive modes (with a turning point) is no longer constant and can even change its sign. In this paper, by dividing the SSP into the non-refractive part and the refractive part, a clear explanation of how the value of ß is affected by the thermocline is presented. The results show that ß can be positive and increase continually from around 1 to +∞; or negative from -∞ to about -3. An analytic criterion of the sign of ß is developed. This method can also be used to analyze the value of ß for any other kind of SSP.

Effects of the surface stoichiometry of seeds on GaN layer growth by hydride vapour phase epitaxy.

The effect of the atmosphere in a reactor prior to hydride vapour phase epitaxy on the surface stoichiometry of both the GaN template and layer growth was studied. The surface stoichiometry of metallic Ga layers was clarified by X-ray photoelectron spectroscopy using templates without NH3 protection. The metallic Ga layer acted as a mask and exerted a significant effect on the subsequent epitaxial layer growth mode. GaN grown on the template without protection followed island growth in the initial growth stage. In contrast, GaN epitaxy on the template with NH3 protection quickly converts to pseudo-2D growth. The images of CL illustrate that the GaN epilayer on the template without protection has a lower dislocation density than the GaN epilayer grown on the template with NH3 protection. Reasons behind this effect have been discussed.

Genetic polymorphisms of the FATP1 gene and their associations with meat quality traits in Chinese Qinchuan cattle.

Fatty acid transport protein 1 (FATP1), an integral membrane protein that facilitates long-chain fatty acid influx, is involved in the genetic network for oleic acid synthesis. The aim of this study was to examine the association of FATP1 polymorphisms with live animal meat quality traits in Chinese Qinchuan cattle. Quantitative real-time PCR analysis demonstrated that FATP1 has a broad tissue distribution in Qinchuan cattle and is highly expressed in longissimus dorsi muscle and back fat. Using direct DNA sequencing of the FATP1 gene in 458 Qinchuan cattle, four single nucleotide polymorphisms (SNPs; g.28265 G>C, g.28381 G>A, g.28470 T>C, and g.28672 G>A) were identified for genotyping within a 671-bp region, including exon 3, intron 3, exon 4, intron 4, and part of exon 5 of the FATP1 gene. Positive effects of genotypes CC (g.28470 T>C locus) and AA (g.28672 G>A locus) on meat quality traits were obtained by association analysis. These results indicate the associations of g.28470 T>C and g.28672 G>A with meat quality traits in Qinchuan cattle. Thus, the FATP1 gene may be used in marker-assisted selection of beef cattle in breeding programs.

Association of SIRT2 gene polymorphisms with body measurement and growth traits of Qinchuan cattle.

Silent information regulator 2 (SIRT2), a member of the Sirtuin family of class III nicotinamide adenine dinucleotide-dependent protein deacetylases, plays an important role in senescence, metabolism, and apoptosis. This study was conducted to detect potential polymorphisms of the bovine SIRT2 gene and explore their relationships with meat quality and body measurement traits (BMTs) in Qinchuan cattle. Four single nucleotide polymorphisms (A7445G, C7711T, G17937A, and G20937A) in the fourth intron, fourth exon, ninth exon, and twelfth exon of the SIRT2 gene, respectively, were identified according to the sequencing results of 520 individuals of a Qinchuan cattle population. The genotypic distributions of both A7445G and G20937A were in agreement with the Hardy-Weinberg equilibrium (P < 0.05), whereas the other two mutations were not (0.05 < P < 0.01), based on the X(2) test. Association analysis indicated that the four loci were significantly correlated with several BMTs and meat quality traits. When in combination, the H1H1 (AA-CC-GG-CC) diplotypes showed better BMT and meat quality traits than those by other combinations. Collectively, the results show that SIRT2 is involved in the regulation of the growth and meat quality of cattle, suggesting that the SIRT2 gene may be a candidate gene for marker-assisted selection in the development of future breeding programs for Qinchuan cattle.

Expression analysis of KAP9.2 and Hoxc13 genes during different cashmere growth stages by qRT-PCR method.

Keratin-associated protein 9.2 (KAP9.2) and Homeobox C13 (Hoxc13) genes were chosen to study because of their biological functions involving hair formation. KAP9.2 gene belongs to the ultra high sulfur KAPs, which is important for hair formation and may have association with cashmere. Hoxc13 takes part in the formation of cashmere keratin and maintaining the normal structure of follicle. It has been reported that Hoxc13 gene exists binding site of KP and KAP genes at its promoter regions in mouse. So the expression of KAP9.2 and Hoxc13 genes was detected at anagen stage vs telogen stage by qRT-PCR. The data showed that KAP9.2 and Hoxc13 gene had similar expression trend at different stages, which indicated that there was interaction between them. KAP9.2 and Hoxc13 gene had lower expression level in anagen than that of in telogen of cashmere growth. In anagen, KAP9.2 and Hoxc13 expressed lower in high cashmere yield individuals than that of in low cashmere yield ones. In telogen, the result was reverse. The study would provide the evidence of involvement of KAP9.2 and Hoxc13 in hair periodic growth.

Variation and expression of KAP9.2 gene affecting cashmere trait in goats.

Keratin-associated proteins 9.2 (KAP9.2) gene encodes one of the ultra high sulfur KAPs. Variation in KAP genes may affect the structure of KAPs and hence cashmere characteristics. In order to test the association between the polymorphism of KAP9.2 gene and cashmere trait, DNA sequencing was used to detect a novel C/T polymorphism of KAP9.2 gene from a genomic DNA pool. The mutation could be recognized by Pst I restriction enzyme. To Shanbei white cashmere goat, Inner Mongolia white cashmere goat and Guanzhong dairy goat, the genotypic frequencies of TT, TC and CC from total 1,236 animals were as follows: 0.047, 0.519 and 0.434; 0.180, 0.592 and 0.228; 0.431, 0.544 and 0.025. The allelic frequencies of T and C were 0.307 and 0.693; 0.476 and 0.524; 0.703 and 0.297, respectively, in breeds mentioned above. The frequency of C allele between cashmere and dairy goat was significant (P < 0.01). To provide support for the hypothesis that SNP 586 was responsible for KAP9.2 expression, quantitative real-time PCR analysis revealed that the expression level of KAP9.2 was reduced in individuals bearing genotype CC compared with TT individuals, suggesting that C was the nucleotide causing decreased expression of KAP9.2 or was in linkage disequilibrium with the causative SNP. The 586C/T SNP found in this study might control translation or stability of KAP9.2 mRNA, which would be beneficial for marker assistant selection in cashmere goat breeding.

Relating waveguide invariant and bottom reflection phase-shift parameter P in a Pekeris waveguide.

The waveguide invariant ß is affected by the shallow-water environment. The effect due to bottom sediment on ß is investigated in this paper. It is found that the effect of sediment bottom can be concentrated on one parameter P-the bottom reflection phase-shift parameter. For a Pekeris waveguide, under Wentzel-Kramers-Brillouin (WKB) approximation, a very simple analytic relation is given: ß ≈ 1 + P/(k(0)H(eff)), where H(eff) is the "effective depth," and H(eff) = H + P/2 k(0). The value of ß related to different high-speed sediments (including layered sediment) ranges from 1.0 to 1.5. Some numerical examples including the layered sediment case are conducted to verify this result. Good agreement between the results calculated by KRAKEN and by WKB with parameter P has been found. Hence, the application of parameter P provides a model-free platform to investigate the bottom effect on the waveguide invariant ß in shallow-water.

Dynamic isomer shift in charge-ordering manganite Y(0.5)Ca(0.5)MnO(3): Mössbauer spectroscopy study.

We report the Mössbauer spectroscopy study on Fe-doped charge-ordering manganite Y(0.5)Ca(0.5)MnO(3). The dynamic isomer shift is observed for charge-ordering manganite, and its origin may be due to strong Jahn-Teller distortions in Y(0.5)Ca(0.5)MnO(3), causing electron-phonon coupling. The evolution of Mössbauer spectroscopy as a function of temperature shows two different phases with significantly different quadrupole splitting values below the charge-ordering transition temperature. This confirms that there exist two different Mn sites (i.e., Mn(3+) and Mn(4+) ions), which can be identified by the microscopic method of Mössbauer spectroscopy.

[Experimental study on tea polyphenols in prevention of hyperlipidemia].

Hyperlipidemia (HP) was induced in quails by feeding high lipid food. Effect of tea polyphenol (TP) on development of HP was observed by feeding various dosage of TP simultaneously and was compared with that of nicotinic acid (NA). The results showed: (1) TP could prevent the increase of serum total cholesterol (TC), triglycerides (TG) and low-density lipoprotein cholesterol (LDL-C). Effect of the group treated with large dose of TP was more significant than that treated with NA (P < 0.05). But no statistically significant difference was observed on the changes of TG and LDL-C between TP and NA treated group. (2) No significant change of HDL-C level was observed in both TP groups and NA group, but both of them could inhibit the elevation of atherogenic index (TC/HDL-C), their effects were similar. It suggested that TP might be a regulator of blood lipid.

[Experimental treatment of smoke inhalation injury with anti-lipid peroxidation agents].

The role of oxygen free radicals in the mechanism of lung damage after smoke inhalation injury was investigated. 42 dogs were used and equally divided into control and treated group. In treated group, a comprehensive anti-lipid peroxidation treatment including Ginseng-ophiopgon, hydrocortisone sodium succinate, Vit. C and E were used at 5 min, 6 hr, and 12 hr postinjury. SOD activity in blood, hypoxanthine, xanthine, uric acid, MDA and SCL in plasma, C2H6 and C2H4 in exhaled breath of dogs after smoke inhalation injury were measured. In addition, blood gas analysis and EVLW were determined to evaluate the lung damage. The results demonstrated that the injured dogs suffered from lung edema and acute lung dysfunction. MDA, SCL in plasma and C2H6, C2H4 in exhaled breath increased markedly, reaching their first peaks at 30 min. and second peaks at 24-72 hours postinjury. The values revealing in first peak in treated group were lower than that in control group. The increase of SOD activity, however, was higher in treated group than in control group. Changes of oxygen free radicals and lipid peroxidation were closely related to lung damage and respiratory dysfunction. These data showed that in early postinjury period increase of oxygen free radicals and excessive lipid peroxidation existed in lungs of dogs. And in treated group, anti-lipid peroxidation activity was increased and lipid peroxidation was inhibited. Lung damage was improved obviously. It was believed that the first peak of changes in oxygen free radicals and lipid peroxidation was related to the onset of early pulmonary damage and the stress response, and the second peak to the development of pulmonary infection and lung repaired.

[Changes in organ water content in patients with postburn multiple organ failure].

Water contents of lung, heart, kidney, liver, gastro-intestines, and spleen in accident victims with good health (N = 10) and patients with postburn multiple organ failure (PBMOF) (N = 10) were measured. It was found that organ water content of all visceral organs was increased markedly in PBMOF patients. Moreover, the severity of increased organ water content was paralleled with the severity of organ failure. However, there were some differences between the results of the estimated blood volume in different organs. The pulmonary, cardiac and gastrointestinal residual blood water volumes were increased in these patients with PBMOF, indicating that congestion and/or sludging were superimposed in these organs. In contract, the renal and spleen residual blood water volumes were decreased, indicating that these organs were suffered from ischemia. On the other hand, the hepatic residual blood water volume was declined in these PBMOF without hepatic failure. However, it was increased in those with hepatic failure. These results suggested that the increase of organ water content might play an important role in the pathogenesis of organ failure.

[Introduction of tracheal intubation with the aid of an fiberoptic bronchoscope in inhalation injury].

This paper reported the clinical use of endotracheal intubation with the aid of fiberoptic bronchoscope in 17 patients with major burns (TBSA 91.38 +/- 6.41%) and inhalation injury during the early postinjury period, pre-operation and acute respiratory failure. The observations revealed that the use of transnasal endotracheal with the aid of fiberoptic bronchoscope significantly improved pulmonary ventilation and respiratory functions when the patients suffered from acute upper airway obstruction during the early postinjury period and acute respiratory failure caused by airway obstruction and atelectasis during the late postinjury period. The above results showed that this method is safe, simple and can significantly improve respiratory function and avoid tracheostomy. It is a valuable method for improving the treatment of patients with inhalation injury.