Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China.

Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December 2022. Among them, 8185 participated in this process, with a participation rate of around 14.76% (95% CI 14.47-15.06%). Quantitative real-time polymerase chain reaction (qPCR) was used to detect deletions of SMN1 exons 7 and 8 (E7, E8) in screened pregnant women. 127 were identified as carriers (111 cases of E7 and E8 heterozygous deletions, 15 cases of E7 heterozygous deletions, and 1 case of E7 heterozygous deletions and E8 homozygous deletions), resulting in a carrying rate of around 1.55% (95% CI 1.30-1.84%). After genetic counseling, 114 spouses of pregnant women who tested positive underwent SMA carrier screening; three of them were screened as SMA carriers. Multiplexed ligation-dependent probe amplification (MLPA) was used for the prenatal diagnosis of the fetuses of high-risk couples. Two of them exhibited two copies of SMN1 exon 7 (normal), and the pregnancy was continued; one exhibited no copies of SMN1 exon 7 and exon 8 (SMA patient), and the pregnancy was terminated. Analyzing SMN1 mutations in Yancheng and provide clinical evidence for SMA genetic counseling and birth defect prevention. Interventional prenatal diagnosis for high-risk families can promote informed reproductive selection and prepare for the fetus's early treatment.

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypoplasia. CASE PRESENTATION: Our report described an individual with mild phenotypes from China. His parents were not consanguineous. The affected individual was non-dysmorphic. Standard X-ray showed that the both hands have only four metacarpal bones. The distal end of the first metacarpal bone on the right was relatively slender, and the distal phalanx was absent. Multiple phalanges and some soft tissues of both hands were fused. Exome sequencing revealed a novel biallelic c.282C⟩Avariant in low-density lipoprotein receptor-related protein 4 (LRP4; OMIM604270; NM_002334.4) causing p. (Asn94Lys) change in the encoded protein. This variant is predicted to be potentially pathogenic, affecting protein structure and function. CONCLUSION: We report a novel missense variant present in homozygosity in LRP4 to broaden the pathogenic spectrum of LRP4 in syndactyly, and exome sequencing technology is a powerful tool for genetic analysis in prenatal diagnosis and medical research, as a preferred method for the diagnosis of syndactyly and related phenotypes.

Surgical outcomes of total arch replacement with modified elephant trunk technique in type A aortic dissection: insights from single-center experience.

BACKGROUND: Total arch replacement with modified elephant trunk technique plays an important role in treating acute type A aortic dissection in China. We aim to summarize the therapeutic effects of this procedure in our center over a 17-year period. METHODS: Consecutive patients treated at our hospital due to type A aortic dissection from January 2004 to January 2021 were studied. Relevant data of these patients undergoing total arch replacement with modified elephant trunk technique were collected and analyzed. RESULTS: A total of 589 patients were included with a mean age of 53.1 ± 12.2 years. The mean of cardiopulmonary bypass, cross-clamping, and selected cerebral perfusion time were 199.6 ± 41.9, 119.0 ± 27.2, and 25.1 ± 5.0 min, respectively. In-hospital death occurred in 46 patients. Multivariate analysis identified four significant risk factors for in-hospital mortality: preexisting renal hypoperfusion (OR 5.43; 95% CI 1.31 - 22.44; P = 0.020), cerebral malperfusion (OR 11.87; 95% CI 4.13 - 34.12; P < 0.001), visceral malperfusion (OR 4.27; 95% CI 1.01 - 18.14; P = 0.049), and cross-clamp time ≥ 130 min (OR 3.26; 95% CI 1.72 - 6.19; P < 0.001). The 5, 10, and 15 years survival rates were 86.4%, 82.6%, and 70.2%, respectively. CONCLUSIONS: Total arch replacement with modified elephant trunk technique is an effective treatment for acute type A aortic dissection with satisfactory perioperative results. Patients with preexisting renal hypoperfusion, cerebral malperfusion, visceral malperfusion, and long cross-clamp time are at a higher risk of in-hospital death.

A self-supported sodium alginate composite hydrogel membrane and its performance in filtering heavy metal ions.

A novel self-supported polysaccharide based hydrogel membrane was prepared by adding cellulose nanofiber (CNF) and micron-sized biochar (BC) into sodium alginate (SA) hydrogel with in-situ free water evaporation ("cooking") process and ionic crosslinking, in which the polyethylene glycol (PEG) was used as a pore-forming agent. Herein, CNF can not only enhance the mechanical property of the matrix, but also assist the homogeneous dispersion of BC. As a result, the prepared membrane had a maximum tensile strength of up to 5.69 MPa, which was more than 2-3 times higher than the previously reported self-supported hydrogel membranes. The flux reached 61.5 Lm-2 h-1 under 0.35 MPa pressure, and the anti-fouling property was also excellent due to its hydrophilicity. In filtration tests, the rejection of Cr (III) and Cr (VI) of 50 mg/l could reach 96.8 % and 91.4 %, respectively. Moreover, the mechanism behind the exceptional high rejection for both cationic and anionic heavy metal was delineated.

Lightweight Polyethylene/Hexagonal Boron Nitride Hybrid Thermal Conductor Fabricated by Melt Compounding Plus Salt Leaching.

Application of porous polymeric materials is severely limited by their ultralow thermal conductivities. Herein, by promoting the formation of thermal conduction pathways, we fabricated open-cellular structured polyethylene/hexagonal boron nitride hybrid thermal conductors via melt compounding plus salt leaching. The structural analyses indicate that the inclusion of hBN can enhance the open-cell level of resultant materials. X-ray diffractions confirm the high in-plane alignments of hBN in each sample. Consequently, the test results evidence the superior thermal conductivities of our samples, and the thermal conductivities of each sample are characterized as functions of hBN loadings. Ultimately, our advanced porous thermal conductor with a low hBN loading of 3.1 vol% exhibits a high specific thermal conductivity of 0.75 (W/mk)/(g/cm3), which is 82.9% higher than virgin PE and far higher than bulk PE/hBN composites. Our work also intends to reveal the architectural advantages of open-cellular, as compared with the close-one, in fabricating porous materials with highly interconnected fillers.

POSS Hybrid Robust Biomass IPN Hydrogels with Temperature Responsiveness.

In order to improve the performance of traditional sodium alginate (SA) hydrogels cross-linked by Ca2+ ions to meet greater application demand, a strategy was designed to structure novel SA-based gels (named OP-PN gels) to achieve both stimulus responsiveness and improved mechanical strength. In this strategy, the SA chains are co-cross-linked by CaCl2 and cationic octa-ammonium polyhedral oligomeric silsesquioxane (Oa-POSS) particles as the first network, and an organically cross-linked poly(N-isopropyl acrylamide) (PNIPA) network is introduced into the gels as the second network. Several main results are obtained from the synthesis and characterization of the gels. For OP-PN gels, their properties depend on the content of both uniformly dispersed Oa-POSS and PNIPA network directly. The increased Oa-POSS and PNIPA network content significantly improves both the strength and resilience of gels. Relatively, the increased Oa-POSS is greatly beneficial to the modulus of gels, and the increased PNIPA network is more favorable to advancing the tensile deformation of gels. The gels with hydrophilic PNIPA network exhibit better swelling ability and remarkable temperature responsiveness, and their volume phase transition temperature can be adjusted by altering the content of Oa-POSS. The deswelling rate of gels increases gradually with the increase of POSS content due to the hydrophobic Si⁻O skeleton of POSS. Moreover, the enhanced drug loading and sustained release ability of the target drug bovine serum albumin displays great potential for this hybrid gel in the biomedical field.

Controlling the shear thickening behavior of suspensions by changing the surface properties of dispersed microspheres.

To investigate the effect of the surface properties of dispersed particles on the shear thickening behavior of their corresponding suspensions and further control this characteristic, three kinds of suspensions were prepared by mixing SiO2, SiO2-NH2, and SiO2-COOH microspheres with a poly(ethylene glycol) fluid medium, and their rheological behavior was analyzed carefully. Compared to the SiO2 microsphere suspension, the SiO2-NH2 and SiO2-COOH microsphere suspensions show a weaker thickening behavior and a greater critical shear rate due to the aggregation tendency caused primarily by the organic chains. Moreover, the rheological behavior of the three suspensions display different dependencies on the pH value, which is comprehensively determined by the interaction between the microspheres and the medium. Moreover, the critical shear stress of suspensions with different pH values could be predicted by the Wagner model, which basically proves that the interaction between the particles significantly influences the beginning of thickening. The thickening degree could be interpreted by friction theory. The critical volume fraction corresponding to the onset of discontinuous shear thickening is determined by the friction coefficient between the particles, which is greatly affected by the pH value.

Effect of microwave chlorine depleted pyrolyzate on the combustion characteristics of refuse derived fuel derived from package waste.

Thermogravimetric-Fourier Transform Infrared Spectroscopy was conducted to evaluate the combustion characteristics of refuse derived fuel (RDF) adding of microwave chlorine depleted pyrolyzate in the mass proportion of 5-15%. It studied the catalyze effect of chlorine depleted pyrolyzate on RDF combustion performance. The combustion process of RDF could be divided into four stages. The temperature range of the most significant combustion stage of 10-RDF was much more extensive than another three ones. According to the FTIR analysis, the addition of chlorine depleted pyrolyzate might promote the combustion of CH4 and carbonyls to CO2 and H2O earlier. Based on the distributed activation energy model (DAEM), the E value of RDF with chlorine depleted pyrolyzate added was much lower than that with no chlorine depleted pyrolyzate added. The chlorine depleted pyrolyzate enhanced the combustion performance of RDF with the lower ignition, lower burnout temperature, better combustion ability, better flammability and more outstanding combustion performance. The best combustion characteristic was obtained when the dosage of chlorine depleted pyrolyzate was 10%.

Enhanced lipid and biomass production using alcohol wastewater as carbon source for Chlorella pyrenoidosa cultivation in anaerobically digested starch wastewater in outdoors.

Alcohol wastewater (AW) as carbon source for enhancing Chlorella pyrenoidosa growth and lipid accumulation in anaerobically digested starch wastewater (ADSW) was performed in outdoor cultivation. The biomass and lipid production significantly increased while adding optimal amount of AW (AW/ADSW=1:15) during exponential phase. In comparison with blank ADSW culture, the optimal AW addition increased the biomass production, lipid content and productivity by 35.29%, 102.68% and 227.91%, respectively. However, AW addition caused severe bacterial contamination and the total bacterial increased by 4.62-fold. Simultaneously, the optimal consortia of microalgae/bacteria effectively removed nutrients from the wastewater, including 405.18±36.47mgCODCr/L/day, 49.15±5.54mgN/L/day and 6.72±1.24mgP/L/day.

Effects of low-temperature pretreatment on enhancing properties of refuse-derived fuel via microwave irradiation.

The present study focuses on pretreatment of enhancing the properties of refuse-derived fuel (RDF) via low-temperature microwave irradiation. These improved properties include lower chlorine content, a more porous surface structure and better combustion characteristics. In this study, low-temperature microwave irradiation was carried out in a modified microwave apparatus and the range of temperature was set to be 220-300℃. We found that the microwave absorbability of RDF was enhanced after being partly carbonized. Moreover, with the increasing of the final temperature, the organochlorine removal ratio was greatly increased to 80% and the content of chlorine was dramatically decreased to an extremely low level. It was also interesting to find that the chlorine of RDF was mainly released as HCl rather than organic chloride volatiles. The finding is just the same as the polyvinyl chloride pyrolysis process. In addition, pores and channels emerged during the modifying operation and the modified RDF has better combustibility and combustion stability than traditional RDF. This work revealed that low-temperature modification of RDF via microwave irradiation is significant for enhancing the quality of RDF and avoiding HCl erosion of equipment substantially.

Dechlorination of organochloride waste mixture by microwave irradiation before forming solid recovered fuel.

In order to form a modified solid recovered fuel (SRF) with low chlorine content, high calorific value and well combustion performance, low temperature microwave irradiation was applied to remove the chlorine of the organochloride waste mixture before they were mixed to form SRF. The optimizing conditions of final temperature, microwave absorbents and heating rate were also detected to obtain high dechlorination ratio and high ratio of hydrogen chloride (HCl) to volatiles. In the temperature range of 220-300°C, 280°C would be chose as the optimal low microwave modified temperature concerning at which the dechlorination ratio was high and ratio of HCl to volatiles was relatively high as well; The use of microwave absorbents of graphite and silicon carbide (SiC) had a pronounced effect on the dechlorination of organochloride waste mixture, and the dechlorination ratio was increased significantly which could be reached to 87%, almost 20% higher than absorbent absent sample; The heating rate should set be not too fast nor too slow, and there was no big difference between the heating rate of 13°C/min and 15°C/min; The content of Cl of modified SRF is dramatically decreased and reaches to a low level 0.328%. Hence, the modified SRF can be ascended from the third class to the second class according to the Finland chlorine Classes I-III. Moreover, the combustibility of modified SRF was substantial improved compared to the traditional SRF. The low heating value was almost 20.56MJ/kg which is close to the LHV of lignite coal and bituminous coal in China, and it increased by 60% over that of traditional SRF. Removing chlorine of organochloride waste mixture before they are mixed with other kinds of combustible waste to form a modified SRF which is expected to be an alternative fuel for combustion in the future.