Chromosome balanced translocation in newborn fetus founded during prenatal diagnosis: Three cases reports.

RATIONALE: Because of the normal phenotype, carriers of specific chromosomal translocations are often diagnosed only after their development of associated malignancies, recurrent miscarriages, and reproductive difficulties. In this paper, we report primary balanced fetal chromosomal translocations by performing the necessary invasive prenatal diagnosis in couples with previous malformations coupled with prenatal testing suggesting a high risk for trisomy 21. PATIENT CONCERNS: Case 1 and Case 2 couples had malformed children, and Case 3 couples had a high risk of trisomy 21 on noninvasive preconception serological testing. DIAGNOSIS AND INTERVENTION: A balanced chromosomal translocation diagnosis was confirmed by karyotyping of fetal cells obtained by amniocentesis. OUTCOMES: All 3 couples decided to continue their pregnancies after learning about the consequences of the chromosomal abnormalities. Approximately a year after the children were born, the staff of the Prenatal Diagnostic Center followed up with a phone call and found that the children physical development and intelligence were normal. LESSON: This case report reports healthy chromosomal balanced translocation newborns born to couples with poor maternal history and couples with abnormalities suggested by preconception testing, and followed up with the newborns to provide some experience in prenatal diagnosis and genetic counseling for chromosomal balanced translocations.

Stable Porous Organic Polymers Used for Reversible Adsorption and Efficient Separation of Trace SO2.

The development of porous solid adsorbents for selective adsorption and separation of SO2 has attracted much attention recently. Herein, we design porous organic polymers (POPs) decorated with pyridine ligands as building units (POP-Py) through a radical polymerization of the 2,5-divinylpyridine (v-Py) monomer. Due to its high BET surface area, nanoporosity, and excellent stability, the prepared POP-Py can be used for reversible adsorption and efficient separation of SO2. The POP-Py possesses a SO2 capacity of 10.8 mmol g-1 at 298 K and 1.0 bar, which can be well retained after 6 recycles, showing an excellent reversible adsorption capacity. The POP-Py also shows superior separation performance for SO2 from a ternary SO2/CO2/N2 mixture (0.17/15/84.83v%), giving a breakthrough time and a saturated SO2 capacity at 178 min g-1 and 0.4 mmol g-1. The retention time was well maintained even under high moisture conditions, confirming its superior water resistance. Furthermore, when other vinyl-functionalized organic ligand monomers (bipyridine, pyrimidine, and pyrazine) were employed for radical polymerization, all of the resultant porous organic ligand polymers (POP-BPy, POP-PyI, and POP-PyA) exhibited superior performance for reversible adsorption and efficient separation of SO2. The combined features of reversible adsorption, efficient separation, and water resistance are important for the industrial applications of these materials as SO2 adsorbents.

Gas-template directed in situ synthesis of highly nitrogen-doped carbon nanotubes with superior sulfur compatibility and enhanced functionalities.

Herein, we develop a low temperature gas template route for in situ growth of highly nitrogen-doped (5.68 wt%), multi-walled carbon nanotubes (N-MWCNTs). The N-MWCNTs exhibit superior sulfur compatibility in hydrogen sulfide (H2S) resource utilization, thus resulting in their enhanced functionality as Li-S cathodes with high sulfur-specific capacity and retention rate.

Sustainable synthesis of ordered mesoporous materials without additional solvents.

Micelles with well-defined nanostructures were generally formed in the presence of a suitable solvent. We report herein the accelerated construction of micelles with ordered nanostructures without assistance of additional solvents. The micelles were employed for ultrafast fabrication of ordered mesoporous silicas (OMS) using tetramethyl orthosilicate (TMOS) as silica source. When γ-aminopropyl triethoxysilane precursor was introduced, we obtained amine group (-NH2) decorated ordered mesoporous silicas (OMS-NH2-x, where x stands for the molar ratio of γ-aminopropyl triethoxysilane to TMOS). The resulted materials are large in BET surface area and tunable in content of -NH2 site, which are highly efficient for catalytic elimination of gaseous carbonyl sulfide and hydrogen sulfide. Using this strategy, other functionalized groups such as thiol and benzene can be also introduced into OMS. Furthermore, the introducing of phenolic precursor into the system leads to multiphase co-assembly for the formation of ordered mesoporous silica-polymer nanocomposites. It is demonstrated that the solvent-free ultrafast assembly offers a sustainable route for preparation of ordered mesoporous functional materials.

Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports.

RATIONALE: Chromosome 18 long arm deletion syndrome is a group of clinical syndromes caused by partial or total genetic material deletion of the long arm of chromosome 18 (18q), whose clinical manifestations are related to presentation and developmental abnormalities in various aspects such as intelligence, face, and movement. Prenatal diagnosis of this syndrome is challenging because of its low incidence and uncharacteristic prenatal clinical performance. In this paper, 2 cases of partial deletion of 18q found in prenatal amniotic fluid examination by high-throughput sequencing were reported and analyzed. PATIENT CONCERNS: In patient 1, non-invasive prenatal gene detection at 21 + 2 weeks of gestation suggests a risk of trisomy 18. In patient 2, ultrasound examination at 21 + 2 weeks of gestation revealed a single live fetus, but it was difficult to pinpoint whether the fetus had only 1 umbilical artery to supply blood. DIAGNOSIS AND INTERVENTION: The 18q deletion syndrome was diagnosed by chromosome karyotype analysis and high-throughput sequencing. OUTCOMES: The pregnancies were terminated due to the abnormal chromosome. LESSON: This report adds novel variants to the genetic profile of 18q deletion, in order to enrich the genetic data of long arm deletion of 18 chromosomes and provide better services for pre-screening, diagnosis, and genetic counseling for this disease.

Efficiently Selective Oxidation of H2S to Elemental Sulfur over Covalent Triazine Framework Catalysts.

As a highly toxic and corrosive waste gas in the industry, hydrogen sulfide (H2S) usually originates from the utilization of coal, petroleum, and natural gas. The selective catalytic elimination of H2S shows great significance to ensure the safety of industrial processes and health of human beings. Herein, we report efficiently selective oxidation of H2S to elemental sulfur over covalent triazine framework (CTF-1-x, x = 400, 500, 600, 400-600 °C) catalysts. CTF-1-x samples were prepared from polymerization of 1,4-dicyanobenzene to form polyaryl triazine networks under ion solidothermal conditions in the presence of ZnCl2, which acts as both an initiator and a porogen. The resultant CTF-1-x samples possess abundant micro-mesoporosity, large Brunauer-Emmett-Teller (BET) surface areas, and tunable structural base sites with edge amine and graphitic nitrogen characteristics, which were homogeneously decorated onto their frameworks. As a result, CTF-1-x samples act as efficient and long-lived catalysts in selective oxidation of H2S to sulfur under ambient conditions (100% H2S conversion, 100% sulfur selectivity at 180 °C, 12 000 mL/(g·h)), and their activities were superior to those of commercial Fe2O3 and g-C3N4 desulfurization catalysts. Abundant nitrogen structural base sites of CTF-1-x effectively activate the reactants, and abundant micro-mesoporosity facilitates mass transfer in and out of CTF-1-x. The improved design of the nitrogen-doped carbon material for H2S activation and conversion could enhance the development of more active and robust nitrogen-doped carbon catalysts.