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To determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene.This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases.Two cases had no significant fetal abnormalities, and were only diagnosed after birth. One case presented in the first trimester with increased nuchal translucency. The remaining five fetuses were identified at late gestation. One of the five fetuses presented in the second trimester with mild ventriculomegaly, and four in the third trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally inherited NSD1 variant in one case.The fetal ultrasound findings in cases with Sotos syndrome, associated with deletions at 5q35 and a point mutation in the NSD1 are not specific with the most common finding being mild ventriculomegaly.

The aim of this study is to identify prenatally diagnosed cases of persistent left superior vena cava (PLSVC) in our clinic, to evaluate the associated structural and chromosomal results, and to review their outcome.During a four-year period, patients with fetal PLSVC were detected by echocardiography. We reviewed medical records of these affected pregnancies, including maternal demographics, sonographic findings, chromosomal microarray results and pregnancy outcomes.There were a total of 140 cases of fetal PLSVC. Eighty-nine fetuses (63.6%) had associated structural anomalies, while the remaining 51 fetuses (36.3%) had PLSVC as an isolated finding. In the non-isolated cases, cardiac anomalies were present in 72 fetuses (80.9%), and extracardiac abnormalities in 45 fetuses (50.6%). Among the 89 cases with non-isolated PLSVC, 12 cases had chromosomal abnormalities including 5 cases of aneuploidies. Among the 51 cases with isolated PLSVC, one pregnancy of chromosomal microduplication was detected.Isolated PLSVC is a benign vascular anomaly in low risk population. However, the information about background risk of identifying an abnormal clinically significant CMA result should be conveyed to all pregnant women when they consults this vascular variation.

Objective To determine monogenic syndromes in cases of fetal akinesia in order to understand the genetic aetiology. Study design Clinical trio exome sequencing (ES) was performed on DNA extracted from postnatal samples in 12 cases with fetal akinesia identified by prenatal ultrasound and a normal chromosomal micro-array analysis result. This test targets coding exons for 4200 clinically relevant disease-causing genes. The interpretation of variants was performed according to the guidelines of the American College of Medical Genetics. Results A definite molecular diagnosis was achieved in six (50 %) of the 12 cases using clinical trio ES. In five cases, the pathogenic variants were located in known fetal-akinesia-associated genes. In one case, the underlying pathogenic variants were in known disease genes that had not been linked to fetal akinesia previously. Six pregnancies were terminated by the parents, and six pregnancies were continued to term. Conclusion Genetic defects leading to fetal akinesia were found in half of the study cases using clinical trio ES. This information will be useful in genetic counselling with regard to prognosis and risk of recurrence.

Although heterotrophic nitrification-aerobic denitrification (HN-AD) is promising in nitrogen removal, it remains unclear for most HN-AD strains in physiological characteristics and metabolic mechanisms. In this study, a newly isolated strain Acinetobacter sp. Z1 converted not only inorganic nitrogen, but also organic nitrogen to N

Objective To report the experience on the clinical use of noninvasive cell-free (cf) DNA testing at late pregnancy. Study design A cohort of 1539 women with singleton gestations of ≥23 weeks receiving cfDNA testing in a 3-year period were included for this study. Maternal characteristics and data on cfDNA testing, confirming diagnostic testing and pregnancy outcome were reviewed. Results During the study period, 1539 patients had cfDNA testing although they had a normal first-trimester screening. Of these, 7 cases had a positive result, including 5 for chromosome 21, one for chromosome 18, and one for chromosome 13. The most common indication was soft markers on ultrasound, followed by polyhydramnios. Cytogenetic testing was done for the 5 trisomy 21 positive cases, and confirmed the cfDNA results. Confirmative testing was declined in the two cases with positive cfDNA for trisomy 18/13, and postnatal placental investigation showed confined placental mosaicism with normal karyotype in the cord blood of newborns. There were no confirmed false negatives reported. The cfDNA screening achieved a positive predictive value of 71.4 % and a negative predictive value of 100 % in late pregnancy for common trisomies. Conclusions There is no gestational age upper limit for cfDNA use in the clinical practice. Most of the time, cfDNA was used in late gestation for reassurance in patients who is at low risk for aneuploidies but had second-trimester soft markers on ultrasound.

Sand-barrier setup is an important measure to protect the topsoil against wind erosion. Salix psammophila checkerboard barriers are used widely in the Mu Us Sandy Land in order to ensure the safety of life and agricultural production. To measure variations in soil structure and quality caused by barriers with different duration (7 years and 2 years), the composition of aeolian sandy soil particles and the soil organic carbon (SOC) distributions are studied; the dunes with no barrier are used as controls (CK). Analyzed by multi-fractal parameters, the topsoil samples are collected in the field and tested in the laboratory. The predominant soil particles are fine sand, medium coarse sand and clay, and the contents of silt and very fine sand increase with extending barrier duration, which shows a wider distribution range, greater dispersion degree and larger soil particle heterogeneity. The aeolian sandy particles, particularly fine granular grains, are deposited and accumulate at the bottom and top of dunes because of the barrier blocking effect. The particle size distribution (PSD) heterogeneity is the highest in 7-year barrier dunes and the lowest in the no barrier dunes. The mean values of D0 (Capacity dimension) of 7-year barrier dunes, D1 (entropy dimension) of the no barrier dunes and D1/D0 of 2-year barrier dunes are maxima. In addition, the PSD range and distribution increased with prolonged dune barrier duration, as well as the changes of Δf(∂) (shape of the multi-fractal spectrum) and Δ∂ (width of multi-fractal spectrum). SOC content increased with increasing barrier duration and decreasing D1/D0. The average SOC contents of 7-year barrier dunes were the maximum and one of no barrier dunes had the minimum SOC content, and their difference was significant (P Correlations between the SOC content and the PSD multi-fractal parameters of both 7-year and 2-year barrier dunes are significantly different (P

Proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a critical role in the cholesterol metabolism by negatively regulating the low-density lipoprotein receptor (LDLR). Lipid metabolic and ovarian disorders are the common clinical manifestation of polycystic ovary syndrome (PCOS). Here, we intended to elucidate the role of PCSK9 in the pathogenesis of PCOS conducted on a human population in case-control design and animal part in an interventional study.We firstly investigated the serum levels of PCSK9 in 46 PCOS patients compared with 49 healthy women as controls, and then developed a PCOS mouse model induced by dehydroepiandrosterone (DHEA) and a high-fat diet (HFD) to determine the role of PCSK9 in abnormal lipid metabolism and ovarian dysfunction of PCOS in four groups (n = 40 per group): control, PCOS mice, PCOS plus alirocumab group, and PCOS plus vehicle group. The expression of PCSK9 in their serum, hepatic and ovarian tissues, serum lipid profiles and hormones were measured. Additionally, mRNA and protein expression levels of LDLR in hepatic and ovarian tissues, ovarian morphology and function were determined. Finally, we used freshly isolated theca-interstitial cells (TICs) and granulosa cells (GCs) from prepubertal normal mice to explore the effect of PCSK9 on LDL uptake of the cells.Serum PCSK9 concentrations were higher in PCOS patients than normal controls (P 0.05). The PCOS model mice exhibited significantly increased serum levels of total cholesterol (TC), LDL-C and high-density lipoprotein-cholesterol (HDL-C; P 0.001, P 0.001, P = 0.0004, respectively). Moreover, the serum PCSK9 protein level was significantly increased in PCOS mice (P = 0.0002), which positively correlated with serum LDL-C (r = 0.5279, P = 0.0004) and TC (r = 0.4151, P = 0.035). In both liver and ovary of PCOS mice, PCSK9 mRNA and protein levels were significantly increased (P 0.05), but LDLR levels were significantly decreased (P 0.05). Furthermore, alirocumab inhibiting PCSK9 partly increased in LDLR expression in both liver and ovary in PCOS mice, also ameliorated the lipid metabolic disorders and pathological changes of ovarian morphology and function and serum reproductive hormones but not in the PCOS plus vehicle group. In vitro experiment, recombinant PCSK9 decreased LDL uptake in TICs and GCs (P 0.001, P = 0.0011, respectively), which were partly reversed by alirocumab (P 0.001, P = 0.012, respectively).Abnormal high expression of PCSK9 in the blood, liver and ovary may be involved in the pathogenesis of PCOS by affecting lipid metabolism and ovarian function, and the inhibition of PCSK9 may partly reverse the pathological changes of PCOS. Our research suggests a possibility of PCSK9 as a new attractive target for diagnosis and treatment of PCOS.

Gap- polymerase chain reaction (PCR), reverse dot-blot assay (RDB), real-time PCR based multicolor melting curve analysis (MMCA assay), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing are conventional methods to diagnose thalassemia but all of them have limitations. In this study, we applied single-molecule real-time (SMRT) sequencing following multiplex long-range PCR to uncover rare mutations in nine patients and their family members. The patients with different results between Gap-PCR and MMCA assay or with phenotype not matching genotype were included. Using SMRT sequencing, we first identified the carriers with ααα

In this study, sodium acetate (NaAC) as a co-substrate effectively promoted the metabolism of sulfamethoxazole (SMX) by microalgae Chlorella pyrenoidosa. In the cultivation supplied with 5.0 and 10.0 g L

Silicone rubber was used as the solid non-aqueous phase of two-phase partitioning bioreactor (TPPB) for dichloromethane (DCM) removal. When the load gradually increased from 150 g m−3 h−1–485 g m−3 h−1 by increasing the gaseous DCM concentration, a steady elimination capacity (EC) of approximately 130 g m−3 h−1 was achieved in one-liquid-phase completely mixed stirred tank bioreactor (CSTB), whereas the EC of TPPB was enhanced from 155 g m−3 h−1–366 g m−3 h−1. This result indicated that DCM removal was controlled by the biological process in CSTB and by mass transfer in TPPB. Meanwhile, the biomass decreased from 534 mg l−1 to 381 mg l−1 in CSTB compared with that maintained at around 580 mg l−1 in TPPB due to the different resistance capabilities to DCM toxicity. Dehalogenase activity was maintained at a relatively high level under high DCM stress with the addition of silicon rubber. TPPB was shown to be more dependable in the overload from 120 g m−3 h−1–450 g m−3 h−1. This paper is the first to report that the crucial step in high-load pollutant removal can be converted from the biological process to mass transfer by adding solid non-aqueous phase.

Volatile organic sulfide compounds (VOSCs) are usually resistant to biodegradation, thereby limiting the performance of traditional biotechnology dealing with waste gas containing such pollutants especially in mixture. In this study, a solid composite microbial inoculant (SCMI) was prepared to remove dimethyl sulfide (DMS) and propanethiol (PT). Given that the DMS degradation activity of Alcaligenes sp. SY1 is inducible and the PT-degradation activity of Pseudomonas putida S-1 is constitutive, different strategies are designed for cell cultivation to obtain high VOSC removal rates of SCMI. Compared with the microbial suspension, the prepared SCMI exhibited better storage stability at 4 and 25°C. Inoculation of the SCMI in biotrickling filters (BTFs) could effectively shorten the start-up period and enhance the removal performance. Microbial analysis by Illumina MiSeq indicated that Alcaligenes sp. SY1 and P. putida S-1 might be dominant and persistent among the microbial communities of the BTF during the operation.