Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.

AIM: Abnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are undergoing IVF/ICSI attempts. Although many genetic factors responsible for these abnormal phenotypes have been identified, there are more additional pathogenic genes and variants yet to be discovered. Previous studies confirmed that bi-allelic PATL2 deficiency is an important factor for female infertility. In this study, 935 infertile patients with IVF/ICSI failure were selected for whole-exome sequencing, and 18 probands carrying PATL2 variants with a recessive inheritance pattern were identified. METHODS: We estimated that the prevalence contributed by PATL2 was 1.93% (18/935) in our study cohort. RESULTS: 15 novel variants were found in those families, including c.1093C > T, c.1609dupA, c.1204C > T, c.643dupG, c.877-2A > G, c.1228C > G, c.925G > A, c.958G > A, c.4A > G, c.1258T > C, c.1337G > A, c.1264dupA, c.88G > T, c.1065-2A > G, and c.1271T > C. The amino acids altered by the corresponding variants were highly conserved in mammals, and in silico analysis and 3D molecular modeling suggested that the PATL2 mutants impaired the physiologic function of the resulting proteins. Diverse clinical phenotypes, including oocyte maturation defect, fertilization failure, and early embryonic arrest might result from different variants of PATL2. CONCLUSIONS: These results expand the spectrum of PATL2 variants and provide an important reference for genetic counseling for female infertility, and they increase our understanding of the mechanisms of oocyte maturation arrest caused by PATL2 deficiency.

Enhanced internal field of Bi4NbO8Cl ferroelectric photocatalyst to promote charge separation via constructing crystal plane-dependent BiOI dielectric layer.

Spontaneous polarization induced by the unique crystal structure of ferroelectric semiconductor photocatalyst facilitates charge separation and injects new vitality into the improvement of the photocatalytic activity. However, due to the complexity of multi-electric field coupling, the actual efficiency of charge separation driven by the depolarization field is restricted by the shielding field, which is lower than theoretical expectations. Here, we take Bi4NbO8Cl as a model system and selectively construct a BiOI dielectric layer on its positive polarized surface through the adsorption-self-assembly method, aiming to reduce the attenuation of the shielding field to the depolarization field. The enhanced residual depolarization field (RDF) is quantitatively characterized by ferroelectric performance test. Moreover, the charge transfer path and final position are elaborated by photo-deposition experiments, while high-quality interface and calculated difference of the potential between Bi4NbO8Cl and BiOI is responsible for the formation of charge transfer channel. The enhanced RDF promotes the separation of charges, which causes that Bi4NbO8Cl/BiOI photo-degradation of bisphenol A (BPA) gives 7.35-fold greater efficiency than Bi4NbO8Cl. This scheme of weakening the shielding field by surface reconstruction engineering is promising to be extended to more ferroelectric photocatalyst systems.

An up-conversion test paper based on "switch-off" of fluorescence is constructed to sensitively and selectively detect cancer-causing dye Sudan III in lipstick.

Cancer-causing dye Sudan III is banned adding to cosmetics, so a method for detecting trace Sudan III in cosmetics is established. A single dispersed up-conversion molecularly imprinted fluorescent nanoprobe is constructed and coated on the filter paper. The mechanism for detecting Sudan III by this composite fluorescent nanoprobes-paper is systematically analyzed. The fluorescent response (max emission peak is at 541 nm) is linearly related to 10-1000 nM Sudan III, and Sudan III can be selectively recognized (imprinting factor increased to 4.1). The limit of detection and quantitation are further reduced to 2.89 nM and 9.63 nM, respectively. The recoveries of Sudan III in lipstick samples are between 93.18 and 108.3%, and relative standard deviation is less than or equal to 4.6%. Trace Sudan III in cosmetics are detected accurately and sensitively by this method due to up-conversion nanoparticles with little interference of background fluorescence and molecularly imprinted polymers with selective enrichment.

Proteomics and Organoid Culture Reveal the Underlying Pathogenesis of Hashimoto's Thyroiditis.

Hashimoto's thyroiditis (HT) is an autoimmune disease, and its incidence continues to rise. Although scientists have studied this disease for many years and discovered the potential effects of various proteins in it, the specific pathogenesis is still not fully comprehended. To understand HT and translate this knowledge to clinical applications, we took the mass spectrometric analysis on thyroid tissue fine-needle puncture from HT patients and healthy people in an attempt to make a further understanding of the pathogenesis of HT. A total of 44 proteins with differential expression were identified in HT patients, and these proteins play vital roles in cell adhesion, cell metabolism, and thyroxine synthesis. Combining patient clinical trial sample information, we further compared the transient changes of gene expression regulation in HT and papillary thyroid carcinoma (PTC) samples. More importantly, we developed patient-derived HT and PTC organoids as a promising new preclinical model to verify these potential markers. Our data revealed a marked characteristic of HT organoid in upregulating chemokines that include C-C motif chemokine ligand (CCL) 2 and CCL3, which play a key role in the pathogenesis of HT. Overall, our research has enriched everyone's understanding of the pathogenesis of HT and provides a certain reference for the treatment of the disease.

Acupoint-tuina therapy promotes lactation in postpartum women with insufficient milk production who underwent caesarean sections.

Breast milk is recognized and strongly recommended by the World Health Organization (WHO) as the optimal feeding for all babies. Breastfeeding is associated with better nutritional and non-nutritional outcomes when compared to formula feeding, and has proven health benefits to both infants and their mothers. This clinical research is to examine the feasibility and efficacy of Acupoint-Tuina therapy in treating postpartum women who underwent C-sections and suffered from insufficient milk production.The patients in the control group received standard medical care, while the patients in the Tuina group received Tuina therapy during the next 48 hours in addition to standard care, given once daily for 2 days. To evaluate the efficacy of Tuina therapy, patients of both groups were assessed for surface temperature of breasts, volume of breasts, volume of breast milk production, serum PRL level, and uterus recovery at various time points.Tuina therapy significantly increased the milk production when compared to the control group, for as much as 13-fold and 10-fold of that in the control group on the third and fourth postpartum days. In addition, Tuina therapy also significantly increased the full breast enlargement and the serum PRL level change, and decreased the breast surface temperature rise. Last but not the least, Tuina therapy also accelerated the post-surgery recovery of uterus.During the early postpartum days, Tuina therapy increases the milk production and promotes other physiological changes supporting lactation for postpartum women with C-section delivery and insufficient breast milk production. The novel intervention is warranted for further investigation and validation.

Synthesis and Absorption Properties of Hollow-spherical Dy2Cu2O5 via a Coordination Compound Method with [DyCu(3,4-pdc)2(OAc)(H2O)2]•10.5H2O Precursor.

Dy2Cu2O5 nanoparticles with perovskite structures were synthesized via a simple solution method (SSM) and a coordination compound method (CCM) using [DyCu(3,4-pdc)2(OAc)(H2O)2]•10.5H2O (pdc = 3,4-pyridinedicarboxylic acid) as precursor. The as-prepared samples were structurally characterized by X-ray diffraction (XRD), scanning electron microscopy (SEM), high-resolution transmission electron microscopy (HRTEM), x-ray photoelectron spectroscopy (XPS) and standard Brunauer-Emmett-Teller (BET) methods. Compared to the aggregated hexahedral particles prepared by SSM, the Dy2Cu2O5 of CCM showed hollow spherical morphology composed of nanoparticles with average diameters of 100-150 nm and a larger special surface area up to 36.5 m2/g. The maximum adsorption capacity (Q m ) of CCM for malachite green (MG) determined by the adsorption isotherms with different adsorbent dosages of 0.03-0.07 g, reached 5.54 g/g at room temperature. The thermodynamic parameters of adsorption process were estimated by the fittings of the isotherms at 298, 318, and 338 K, and the kinetic parameters were obtained from the time-dependent adsorption isotherms. The results revealed that the adsorption process followed a pseudo-second-order reaction. Finally, the adsorption mechanism was studied using a competitive ion (CI) experiments, and the highly efficient selective adsorption was achieved due to strong O-Cu and O-Dy coordination bonds between Dy2Cu2O5 and MG.