Municipal solid waste incineration (MSWI) generates bottom ash, fly ash (FA), and air pollution control (APC) residues as by-products. FA and APC residues are considered hazardous due to the presence ...of soluble salts and a high concentration of heavy metals, and they should be appropriately treated before disposal. Physicochemical characterization using inductively coupled plasma mass spectroscopy (ICP-MS), X-ray diffraction (XRD), and X-ray fluorescence (XRF) have shown that FA and APC have potential for reuse after treatment as these contain CaO, SiO
2
, and Al
2
O
3
. Studies conducted on treatment of FA and APC are categorized into three groups: (i) separation processes, (ii) solidification/stabilization (S/S) processes, and (iii) thermal processes. Separation processes such as washing, leaching, and electrochemical treatment improve the quality and homogeneity of the ash. S/S processes such as chemical stabilization, accelerate carbonation, and cement solidification modify hazardous species into less toxic constituents. Thermal processes such as sintering, vitrification, and melting are effective at reducing volume and producing a more stable product. In this review paper, the treatment processes are analyzed in relation to ash characteristics. Issues concerning mixing FA and APC residues before treatment, true treatment costs, and challenges are also discussed to provide further insights on the implications and possibilities of utilizing FA and APC as secondary materials.
Trio exome sequencing was performed on a female fetus with an increased nuchal translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal outflow tract of the heart. A de ...novo heterozygous variant c.5500_5507del, p.(Tyr1834Argfs × 58) in the MED12 gene was detected. Loss‐of‐function variants in MED12 in females are associated with Hardikar syndrome (HS). A follow‐up ultrasound at 15+5 weeks of gestation identified multiple fetal anomalies including bilateral cleft lip and palate, diaphragmatic hernia, atrioventricular septal defect, persistent truncus arteriosus, and bilateral renal pelvis dilation. Fetal autopsy confirmed the prenatal sonographic findings, and the MED12 variant was discussed by our multidisciplinary team to be the cause of fetal anomalies. Our case is the first prenatal one in which HS was diagnosed due to first trimester structural malformations. This case report presents another example of early identification of a major anomaly which allows earlier genetic diagnosis and more time for clinical management.
Key points
What's already known about this topic?
Hardikar syndrome (HS) is caused by loss‐of‐function variants in X‐linked MED12 in females.
HS is characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate (CLP), pigmentary retinopathy, and congenital heart defects.
What does this review add?
We first report a female fetus with HS identified in the first trimester due to increased nuchal translucency (NT), CLP and cardiac defects.
This case report presents another example of early identification of a major anomaly which allows earlier genetic diagnosis and more time for clinical management.
Objective
The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.
Method
Pregnant women who ...were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental blood, were send for rapid copy number variations testing and medical trio ES in parallel.
Results
Definitive molecular diagnosis was made in 24/27 (88.9%) cases. Chromosomal abnormality (partial trisomy 18) was detected in one case. Sequencing results had explained the prenatal phenotype enabling definitive diagnoses to be made in 23 cases. There were 16 de novo dominant pathogenic variants, four dominant pathogenic variants inherited maternally or paternally, two recessive conditions with pathogenic variants inherited from unaffected parents, and one X‐linked condition. The turnaround time from receipt of samples in the laboratory to reporting sequencing results was within 2 weeks.
Conclusion
Medical trio ES can yield very timely and high diagnostic rates in fetuses presenting with suspected skeletal dysplasia. These definite diagnoses aided parental counseling and decision making in most of cases.
Objective
The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first‐trimester increased nuchal translucency (NT) in order to provide more accurate ...parental counseling.
Methods
Medical trio exome sequencing (ES) was performed on DNA extracted from chorionic villi in 73 fetuses with isolated first‐trimester increased NT (≥3.5 mm) and normal chromosomal microarray analysis (CMA). This testing targets coding exons for 4200 clinically relevant disease‐causing genes. The interpretation of variants was performed according to the American College of Medical Genetics guidelines.
Results
Pathogenic variants were detected in four cases in which phenotypes and genotypes correlate well. Medical trio ES offered a 5.5% (4/73) increase in diagnostic rate over CMA in cases with isolated increased NT. Three of four cases with pathogenic variants developed structural anomalies on ultrasound at mid pregnancy, leading to the pregnancy termination. Only one case with a pathogenic variant demonstrated normal ultrasound throughout pregnancy.
Conclusion
Our results indicate that after a normal CMA, fetuses with isolated first‐trimester increased NT have a 1.4% (1/73) risk of significant childhood genetic syndromes caused by known disease‐causing variants, which will not be detectable on prenatal ultrasound. This information may be useful in parental counseling.
Objective
We aimed to investigate the value of exome sequencing (ES) in fetuses with callosal anomalies (CA) with or without other structural anomalies, but with normal findings by karyotyping and ...chromosome microarray analysis (CMA).
Methods
Cases with CA with or without other structural anomalies were screened for eligibility. Fetuses with abnormal karyotyping or CMA results were excluded. We performed ES on DNA samples from eligible fetus‐parental trios and identified diagnostic genetic variants based on the ultrasonographic features.
Results
A total of 50 eligible fetus‐parental trios were successfully analyzed by ES. We found 17 likely pathogenic or pathogenic variants in 14 genes from 17 fetuses, with a total proportion of diagnostic genetic variants equal to 34.0% (17/50). Of the 17 cases with a diagnosis, 10 (29.4%, 10/35) were isolated and 7 (43.8%, 7/15) were non‐isolated. Pregnancy outcome data showed that 70.0% (7/10) of the surviving isolated CA fetuses with negative ES results had a good prognosis in early childhood.
Conclusions
Our study used ES prenatally for CA and showed that ES can be used diagnostically to define the molecular defects that underlie unexplained CA. Most subjects with isolated CA with negative results for genetic causes will have a favorable prognosis in early childhood.
Key points
What is already known on this topic?
CNVs and monogenic causes have been shown to be associated with callosal anomalies (CA).
Approximately 28.8%–50% of children with CA experienced general intellectual, academic, executive, social and/or behavioral difficulties and approximately 20%–71.2% were functioning at a level comparable to typically developing children.
What does this study add?
This study analyzed the use of exome sequencing (ES) in a group of fetuses with CA and the total proportion of diagnostic genetic variants was 34.0%.
Most subjects with isolated CA with negative results for genetic causes will have a favorable prognosis in early childhood.
This study investigated methane productions and the microbial communities in the batch anaerobic digestion process with the mono-digestion of corn stalk (CS) and pig manure (PM), and the co-digestion ...of them. Co-digestion showed the best methane performance, the cumulative methane yield, 256.57 mL·gVS−1; methane production potential, 281.55 mL·gVS−1; maximum methane production rate, 10.17 mL·d−1·gVS−1; and lag phase, 4.24 d. Moreover, co-digestion achieved a more suitable microenvironment including pH, FA and FVFA compared to mono-digestions. Results of high-throughput sequencing indicated that in co-digestion the dynamic changes of relative abundances of phyla and predominant genera were very small and community structure presented a stable status. Acetoclastic pathway was the main biochemical pathway of methanogenesis in co-digestion and mono-digestion of PM, and the growth rate of Methanosaeta in co-digestion was higher. So suitable microenvironment in co-digestion resulted in high growth rate of methanogens and stable microbial community, and leaded to the high methane production.
•Co-digestion and mono-digestion with corn stalk and pig manure.•Kinetic analysis by Gompertz equation was used to prove that co-digestion had higher efficiency than mono-digestion.•Co-digestion contributed to achieving a suitable microenvironment including pH, FA and FVFA compared to mono-digestions.•The microbial community structure in co-digestion presented more stable status by high-throughput sequencing analysis.
The pluripotent mouse embryonal carcinoma cell line P19 is widely used as a model for research on all‐trans‐retinoid acid (RA)‐induced neuronal differentiation; however, the signaling pathways ...involved in this process remain unclear. This study aimed to reveal the molecular mechanism underlying the RA‐induced neuronal differentiation of P19 cells. Real‐time quantitative polymerase chain reaction and Western blot analysis were used to determine the expression of neuronal‐specific markers, whereas flow cytometry was used to analyze cell cycle and cell apoptosis. The expression profiles of messenger RNAs (mRNAs) in RA‐induced neuronal differentiation of P19 cells were analyzed using high‐throughput sequencing, and the functions of differentially expressed mRNAs (DEMs) were determined by bioinformatics analysis. RA induced an increase in both class III β‐tubulin (TUBB3) and neurofilament medium (NEFM) mRNA expression, indicating that RA successfully induces neuronal differentiation of P19 cells. Cell apoptosis was not affected; however, cell proliferation decreased. We found 4117 DEMs, which were enriched in the phosphoinositide 3‐kinase/protein kinase B (PI3K/Akt) signaling pathway, Wnt signaling pathway, and cell cycle. Particularly, a few DEMs could be identified in the PI3K/Akt signaling pathway networks, such as PI3K, Akt, glycogen synthase kinase‐3β (GSK3β), cyclin‐dependent kinase 4 (CDK4), P21, and Bax. RA significantly increased the protein expression of PI3K, Akt, phosphorylated Akt, GSK3β, phosphorylated GSK3β, CDK4, and P21, but it reduced Bax protein expression. The Akt inhibitor affected the increase of TUBB3 and NEFM mRNA expression in RA‐induced P19 cells. The molecular mechanism underlying the RA‐induced neuronal differentiation of P19 cells is potentially involved in the PI3K/Akt/GSK3β signaling pathway. The decreased cell proliferation ability of neuronally differentiated P19 cells could be associated with the expression of cell cycle proteins.
This study aimed to reveal the molecular mechanism underlying all‐trans‐retinoid acid (RA)‐induced neuronal differentiation of P19 cells. The molecular mechanism underlying the RA‐induced neuronal differentiation of P19 cells is potentially involved in the PI3K/Akt/GSK3β signaling pathway. The decreased cell proliferation ability of neuronally differentiated P19 cells could be associated with the expression of cell cycle proteins.
