Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.

BACKGROUND: To explore the clinical application value of pre-conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age. METHODS: The results of genetic testing of infertile parents who underwent PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University, China, from September 2019 to December 2021, were retrospectively analyzed. The carrier rate of single gene disease, the detection rate of high-risk parents, and the clinical outcome of high-risk parents were statistically analyzed. RESULTS: A total of 1372 Chinese Han ethnicity patients underwent PECS, among which 458 patients underwent the extended 108-gene test, their overall carrier rate was 31.7%, and the detection rate of high-risk parents was 0.3%. The highest carrier rates were SLC22A (2.4%), ATP7B (2.4%), MMACHC (2.2%), PAH (1.8%), GALC (1.8%), MLC1 (1.3%), UNC13D (1.1%), CAPN3 (1.1%), and PKHD1 (1.1%). There were 488 women with fragile X syndrome-FMR1 gene detection, and 6 patients (1.2%) had FMR1 gene mutation. A total of 426 patients were screened for spinal muscular atrophy-SMN1, and the carrier rate was 3.5%, and the detection rate of parents' co-carrier was 0.5%. CONCLUSION: Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre-pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis could provide more precise reproductive choices for high-risk parents.

The application of aged refuse in nitrification biofilter: Process performance and characterization.

High adsorption capacity, good biocompatibility and low cost are highly demanded for biofilter used in ammonium-rich wastewater treatment. In this study, we used SEM, BET, XRD and 16S rRNA to document the evidence for good performance in adsorption and biodegradation in aged refuse. Parallel experiment between raw and inert refuse showed ammonium adsorption occurred at the initial week, with the highest ammonium removal efficiency of 90.36%, but saturated during the subsequent long-term operation. Meanwhile, over 6months' operation of an aged refuse biofilter was conducted to confirm that nitrification was the main pathway of ammonium conversion. The maximum nitrogen loading rate could reach up to as high as 1.28kg/m3/d, with ammonium removal efficiency at 99%. Further, high nitrifier biodiversity were detected with 'Nitrosomonas' and 'Nitrospira' in domination in the refuse. However, Nitrospira would outcompete Nitrosomonas under the oxygen limiting condition and resulted in the failure of partial nitrification. The physicochemical and biological analysis show that biodegradation is the main ammonium conversion pathway, which is the critical finding of this work. This investigation would help to accelerate the application of the aged refuse process in ammonium-rich wastewater treatment.

Insights into the role of extracellular polymeric substances in Zn2+ adsorption in different biological sludge systems.

The adsorption behavior of Zn2+ in four different biological sludge systems, i.e. activated sludge, denitrification sludge, short-cut nitrification sludge, and anammox granules, was investigated. The results indicated that all sludge samples possessed considerable potential for Zn2+ adsorption. Short-cut nitrification sludge possessed the highest Zn2+ maximum adsorption capacity (qm) of 36.4 mg g SS-1, which was much higher than other sludges applied (12.8-14.7 mg g SS-1). Besides, the adsorption rate for short-cut nitrification sludge was fastest among the four types of sludge after fitting with a pseudo-second-order rate equation. Comparing with the physicochemical properties of the four sludges, the soluble extracellular polymeric substances (EPS), especially soluble polysaccharide (PS), played a prior role in binding metal cations (i.e., Zn). The present study also showed that with less than 30% of Zn2+ trapped by EPS, 61.6-71.9% of Zn2+could be harvested directly by cells, indicating that the protecting capability by EPS was limited. Therefore, it is important to remove metal ions as early as possible if the activated sludge processes encountered high stress of heavy metal. Graphical abstract ᅟ.

Corrigendum to "Start-Up Characteristics of a Granule-Based Anammox UASB Reactor Seeded with Anaerobic Granular Sludge".

[This corrects the article DOI: 10.1155/2013/396487.].

Comparative evaluation of short-term stress of Cd(II), Hg(II), Pb(II), As(III) and Cr(VI) on anammox granules by batch test.

Batch experiments were conducted to investigate the short-term effects of Cd(II), Hg(II), Pb(II), As(III) and Cr(VI) on anammox activity, which are considered to be the top 5 toxic heavy metals in China. The IC50 values of Cd(II), Hg(II), Pb(II) and Cr(VI) were calculated to be 7.00, 2.33, 10.40 and 9.84 mg/L, respectively, while As(III) caused only 29.67% decrease in SAA even at the dosage of 60 mg/L. The evaluation of metal concentrations in liquid and sludge revealed that anammox biomass hold a high heavy-metal accumulation ability, which was hypothesized to be the key reason of activity inhibition. The functional groups possessed by anammox biomass and the extracellular polymeric substance (EPS) might contribute to the attachment of heavy metals. Especially, microbial reduction of Cr(VI) to Cr(III) inside the granules was discovered, which was considered to relieve the Cr(VI) inhibition under concentrations lower than 8.96 mg/L.

Enhanced short-cut nitrification in an airlift reactor by CaCO3 attachment on biomass under high bicarbonate condition.

The short-cut nitrification (SCN) performance of an airlift reactor (ALR) was investigated under increasing bicarbonate condition. The sequential increase of bicarbonate from 2.5 to 7.0 g/L accelerated the nitrite accumulation and improved the NAP to 99 %. With the increase of bicarbonate dose to 11 g/L, the ammonium removal efficiency and the ammonium removal rate (ARR) were improved to 95.1 % and 0.57 kg/m(3)/day, respectively. However, the elevation of bicarbonate concentration from 11.0 to 14.0 g/L gradually depreciated the nitrite accumulation percentage to 62.5 %. Then, the reactor was operated in increasing ammonium strategy to increase the nitrogen loading rate (NLR) to 1.1 kg/m(3)/day under 700 mg/L influent ammonium concentration. The ARR and nitrite production rate were elevated to 1.1 and 0.9 kg/m(3)/day, respectively. The SCN performance was improved to 1.8 kg/m(3)/day (NLR) by the subsequent progressive shortening of HRT to 4.8 h at ammonium concentration of 350 mg/L, which was 1.6 times higher than that of the increasing ammonium strategy. Chemical analysis with EDS, FTIR and XRD confirmed the presence of CaCO3 precipitates on biomass surface during the long-term operation under high bicarbonate conditions. The attachment of precipitates to the SCN sludge helped to improve the biomass settleability and finally enhanced the SCN performance of the ALR.

Partial nitrification in an air-lift reactor with long-term feeding of increasing ammonium concentrations.

The partial nitrification (PN) performance under high ammonium concentrations was evaluated in an airlift reactor (ALR). The ALR was operated for 253days with stepwise elevation of ammonium concentration to 1400mg/L corresponding nitrogen loading rate of 2.1kg/m(3)/d. The ammonium removal rate was finally developed to 2.0kg/m(3)/d with average removal efficiency above 91% and nitrite accumulation percentage of 80%. Results showed that the combined effect of limited DO, high bicarbonate, pH and free ammonia (FA) contributed to the stable nitrite accumulation substantially. The biomass in the ALR was improved with the inception of granulation. Precipitates on biomass surface was unexpectedly experienced which might improve the settleability of PN biomass. Organic functional groups attached to the PN biomass suggested the possible absorbability to different types of pollutant. The results provided important evidence for the possibility of applying an ALR to treat high strength ammonium wastewater.

[The relationship of ECG and pregnancy outcome of older pregnant woman in late pregnancy].

OBJECTIVE: To observe the changes of electrocardiogram (ECG) and pregnancy outcome of the late pregnancy women. METHODS: Late pregnancy women were divided into two groups by age: over 35 group and under 35 group. The incidence of abnormal electrocardiogram was recorded when the patients were subjected to routine ECG examination. Then the pregnancy, delivery outcome and if there's low birth weight newborn were recorded later. RESULTS: The incidence of abnormal ECG in over 35 group was significantly higher than that in under 35 group (P < 0.05). And the incidence of ST segment changes, arrhythmia in the group of former was higher than that in the group of latter (P < 0.05). Among the different type of arrhythmia, the incidence of sinus bradycardia and ventricular premature beat in the group of former were higher than those in the group of latter (P < 0.05). But the incidence of sinus tachycardia in the former group was obviously lower than that in the latter group (P < 0.05). The incidence of pregnancy loss in over 35 with abnormal ECG group was significantly higher than that in under 35 with normal or abnormal ECG groups (P < 0.05). The incidence of premature birth in over 35 with abnormal ECG group was significantly higher than that in over 35 with normal ECG group (P < 0.05). The incidence of low body weight in over 35 with abnormal ECG group was significantly higher than that in under 35 with normal ECG group (P < 0.05). CONCLUSION: The late pregnancy women with the age of over 35 are more likely to have ECG abnormalities, such as arrhythmia, myocardial ischemia and so on. The older pregnant women with abnormal ECG easily suffer from pregnancy losing, premature birth and having a low birth weight baby.

The increasing interest of ANAMMOX research in China: bacteria, process development, and application.

Nitrogen pollution created severe environmental problems and increasingly has become an important issue in China. Since the first discovery of ANAMMOX in the early 1990s, this related technology has become a promising as well as sustainable bioprocess for treating strong nitrogenous wastewater. Many Chinese research groups have concentrated their efforts on the ANAMMOX research including bacteria, process development, and application during the past 20 years. A series of new and outstanding outcomes including the discovery of new ANAMMOX bacterial species (Brocadia sinica), sulfate-dependent ANAMMOX bacteria (Anammoxoglobus sulfate and Bacillus benzoevorans), and the highest nitrogen removal performance (74.3-76.7 kg-N/m(3)/d) in lab scale granule-based UASB reactors around the world were achieved. The characteristics, structure, packing pattern and floatation mechanism of the high-rate ANAMMOX granules in ANAMMOX reactors were also carefully illustrated by native researchers. Nowadays, some pilot and full-scale ANAMMOX reactors were constructed to treat different types of ammonium-rich wastewater including monosodium glutamate wastewater, pharmaceutical wastewater, and leachate. The prime objective of the present review is to elucidate the ongoing ANAMMOX research in China from lab scale to full scale applications, comparative analysis, and evaluation of significant findings and to set a design to usher ANAMMOX research in culmination.

Start-up characteristics of a granule-based anammox UASB reactor seeded with anaerobic granular sludge.

The granulation of anammox sludge plays an important role in the high nitrogen removal performance of the anammox reactor. In this study, anaerobic granular sludge was selected as the seeding sludge to start up anammox reactor in order to directly obtain anammox granules. Results showed that the anammox UASB reactor was successfully started up by inoculating anaerobic granular sludge, with substrate capacity of 4435.2 mg/(L · d) and average ammonium and nitrite removal efficiency of 90.36% and 93.29%, respectively. During the start-up course, the granular sludge initially disintegrated and then reaggregated and turned red, suggesting the high anammox performance. Zn-Fe precipitation was observed on the surface of granules during the operation by SEM-EDS, which would impose inhibition to the anammox activity of the granules. Accordingly, it is suggested to relatively reduce the trace metals concentrations, of Fe and Zn in the conventional medium. The findings of this study are expected to be used for a shorter start-up and more stable operation of anammox system.

[Effect of different plant growth regulators on transplanting survival ratio of Haloxylon ammodendron seedling and parasitic ratio of Cistanche deserticola].

OBJECTIVE: To study the effect of different plant growth regulators on the transplanting survival ratio of Haloxylon ammodendron seedlings and parasitic ratio of Cistanche deserticola. METHODS: Different combinations of PDJ and rooting powder were used for rooting soaking with Haloxylon ammodendron seedlings, then the survival ratio of Haloxylon ammodendron and parasitic conditions of Cistanche deserticola were statistical analyzed by SAS software. RESULTS: PDJ had promotable effect on the inoculating survival ratio of Haloxylon ammodendron and the parasitic ratio, parasitic number and size of Cistanche deserticola, but had no significant effect on the transplanting survival ratio. High concentration of PDJ (1 x 10(-5) mol/L) and rooting powder treatment improved the inoculation survival ratio, and low concentration of PDJ (1 x 10(6) mol/L) treatment improved the parasitic ratio of Cistanche deserticola, but PDJ with rooting powder treatment had inhibitive effect on the parasitism of Cistanche deserticola. Principal component analysis showed that the transplanting survival ratio, inoculating survival ratio, parasitic ratio and the parasited number of Cistanche deserticola could be taken to evaluate the effect of different plant growth regulators, and the comprehensive effect was the best with PDJ treatment. CONCLUSION: Rooting soaking with PDJ can be used to improve the survival ratio of Haloxylon ammodendron seedling and parasitic ratio of Cistanche deserticola.

[Calcium distribution in the developing anther of Lycium barbarurn L].

We used potassium antimonate to precipitate "exchangeable cellular Ca2+"-calcium that is sufficiently loosely bound to combine with antimonite, to investigate the feature of calcium distribution during anther development of Lycium barbarurn L. Before the stage of microspore mother cell, few calcium-induced precipitates were found in sporogenous cells and the somatic cells of anther wall. When microspore mother cell (MMC) preparing meiosis, calcium precipitates appeared in the cytoplasm of tapetal cells and callus wall surrounding MMC. After the meiosis of MMC,abundant calcium precipitates were accumulated in the cytoplasm of early microspores,and then in pollen wall, especially in the part of germ-pores. During the late microspore stage,a big vacuole formed and the nucleus was forced to move to peripheral region. Calcium precipitates decreased sharply and might dissolve in the large vacuole. After microspore mitosis, calcium precipitates appeared in the big vacuole of 2-cellular pollen,and then the vacuole disappeared. After that, the calcium precipitates again appeared in the cytoplasm of 2-cellular pollen, and the cytoplasm became densely and storage materials like starches accumulated inside the pollen grains. When pollen maturating,many small calcium precipitates distributed in its cytoplasm,especially in nucleus. The feature of calcium distribution in the anther of Lycium barbarurn L. means that it plays some biological roles during microspore development.

[Isolation and characterization of a DRE-binding transcription factor from Yinxin poplar (Populus alba x P. alba var. pyramidalis)].

Dehydration-Responsive Element Binding ( DREB) transcription factors, specifically binding with dehydration reponsive element (DRE), activate a variety of stress-responsive genes in plants under abiotic stresses (dehydration, high salt and low temperature). Using PCR and homologous EST search, we isolated a DREB-like gene from Yinxin poplar (Populus alba x P. alba var. pyramidalis) named PaDREB2. Yeast One-hybrid experiment demonstrated that PaDREB2 protein could function as a DREB transcription factor activating target gene expression by specifically binding to DRE cis-element. To study the expression pattern of PaDREB2, RT-PCR was carried out. And the results showed that PaDREB2 is induced by low temperature, drought and high salt.