Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.

Background: Cryopyrin-associated periodic syndromes (CAPS) have been considered autoinflammatory diseases resulting from NLRP3 gene mutations. In recent years, these conditions have been redefined as NLRP3-associated autoinflammatory diseases (NLRP3-AID). Our previous study highlighted a case of a Chinese individual carrying the de novo NLRP3 mutation. Results: A female child carrying a de novo variant (c.1718T>G, p. L573W) in the NLRP3 gene was presented in this work. The patient manifested various symptoms, including recurrent fever, a rash resembling urticaria, arthritis, physical growth retardation, a notable prominence of the forehead, and a flat nose bridge. Additionally, inflammatory markers, like WBC count, PLT count, CRP, ESR, and IL-6 showed elevated levels. Additionally, we observed interstitial pulmonary disease in the patient, which is not frequently mentioned in previous studies. Notably, the proband did not present with any ocular, auditory, or neurological symptoms. After 12 weeks of subcutaneous canakinumab injection, there was a clear improvement in the patient's clinical manifestations and inflammatory markers. Conclusion: Our study contributes to broadening the clinical spectrum of established pathogenic variants of NLRP3 gene, which are related to NLRP3-AID.

Long noncoding RNA FGD5-AS1 alleviates childhood IgA nephropathy by targeting PTEN-mediated JNK/c-Jun signaling pathway via miR-196b-5p.

This paper studied lncRNA FGD5 antisense RNA 1 (FGD5-AS1)-associated mechanisms in immunoglobulin A nephropathy (IgAN). FGD5-AS1, miR-196b-5p, and PTEN in the serum of children with IgAN were assessed. MES-13 cells were stimulated by p-IgA1 to construct an in vitro model of IgAN. After plasmid intervention, cell proliferation, cell cycle, apoptosis, and inflammatory response were correspondingly evaluated. An IgAN mouse model was established to define FGD5-AS1/miR-196b-5p/PTEN axis-mediated alternations of 24-h proteinuria, blood urea nitrogen, serum creatinine, glomerular IgA deposition, renal fibrosis, and glycogen content in renal tissue. The changes in JNK/c-Jun pathway activation in the cell model were also tested. Our results discovered that FGD5-AS1 and PTEN were down-regulated and miR-196b-5p was up-regulated in children with IgAN. Overexpression of FGD5-AS1 or silencing of miR-196b-5p impeded the proliferation and inflammatory response and induced apoptosis of p-IgA1-stimulated MES-13 cells, and improved pathological conditions in IgAN mice. Inhibition of PTEN rescued the therapeutic effects of overexpression of FGD5-AS1 or inhibition of miR-196b-5p on IgAN. FGD5-AS1/miR-196b-5p/PTEN axis inhibited the activation of the JNK/c-Jun pathway. Taken together, FGD5-AS1 attenuates IgAN by targeting PTEN-mediated JNK/c-Jun signaling via miR-196b-5p. Therefore, FGD5-AS1 may be a new therapeutic target for IgAN.

Preparation of acylated blueberry anthocyanins through an enzymatic method in an aqueous/organic phase: effects on their colour stability and pH-response characteristics.

To explore the potential of anthocyanins in pH-colour responsive intelligent packaging and improve the stability of the pigments, 3,4,5-trimethoxybenzoic acid and gallic acid were grafted onto blueberry anthocyanins via enzyme-catalysed grafting. The structural analysis based on UV-vis and IR spectroscopy showed that the two acids were successfully grafted onto the blueberry anthocyanins. The acylation degrees of the 3,4,5-trimethoxybenzoic acid-acylated anthocyanin (Tr-An) and gallic acid-acylated anthocyanin (Ga-An) were 6.38% and 6.51%, respectively. The results from the DPPH radical scavenging assay and ferric reducing antioxidant power assay implied that the antioxidant capacity of Tr-An was worse than that of natural anthocyanin (Na-An), but the antioxidant capacity of Ga-An was stronger than that of Na-An. The grafting of the two acids enhanced the stability of the blueberry anthocyanins and had little effect on the pH-colour response characteristics of the blueberry pigments.

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.

OBJECTIVE: The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result. METHODS: Genomic DNA from the proband and his parents were extracted from 200 to 400 µl of peripheral blood samples. A 4000 pathgenic genes diagnostic screening panel developed by our laboratory group was used for gene mutation screening. The panel covered the TCOF1 (NM_001135243.1), POLR1C (NM_203,290) and POLR1D (NM_015,972) genes associating with TCS. RESULTS: We reported a case of typical, complete syndrome with a nonsense mutation c.1622G > A (p.W541*) in exon 11 of TCOF1, who presents bilateral external ears abnormalities, atresia of external auditory canals, antimongoloid slant of the eyes, bilateral partial coloboma of the lateral part of the lower lids, a large and protruding nose, macrostomia, cleft palate and hair displacement anterior to the auricle. CONCLUSIONS: Our report expands the spectrum of known pathogenic TCOF1 variants associated with TCS in humans.TCOF1 deficiency may cause a severe neonatal presentation with birth defects.

[Pharmacognosy identification of Embelia parviflora].

OBJECTIVE: To study the morphological character and microscopic identification of Embelia parviflora. METHODS: Researches on the morphological character and microscopic identification of roots and stems of Embelia parviflora were carried on respectively. RESULTS: Significant microscopic characteristics of Embelia parviflora were confirmed. Such as single stone cells scattered in the root cortical, lots of stone cell groups and fiber bundles scattered in the column parts and became ring intermittently. Stem phloem was broad, large scale secretory cells scattered near cambium region and stone cell groups in ray parts. Crystal stone cells of thick and thin could be seen in powder. CONCLUSION: These features can be used as the reference for quality standard of Embelia parviflora.

Evaluation of an amperometric glucose biosensor based on a ruthenium complex mediator of low redox potential.

An amperometric glucose ring-disk biosensor based on a ruthenium complex mediator of low redox potential was fabricated and evaluated. This thin-layer radial flow microsensor (10mul) with ring-disk working electrode displayed remarkable amperometric sensitivity. For Ru(3)(mu(3)-O)(AcO)(6)(Py)(3)(ClO(4)) (Ru-Py), a trinuclear oxo-acetate bridged cluster, a reversible redox curve of low redox potential and narrow potential window (redox potentials were -0.190 and -0.106V versus Ag/AgCl wire, respectively) was observed, which is comparable to many reported mediators such as ferrocene derivatives and other ruthenium complexes. The glucose and hydrogen peroxide assays were carried out with this complex-modified electrode Ru-Py-HRP-GOx/Nafion. The sensitivity was obtained 24nA (15.4mAM(-1)cm(-2)) for 10muM glucose and 126 nA (160mAM(-1)cm(-2)) for 5muM H(2)O(2), respectively with a working potential at 0V versus Ag/AgCl. Ascorbic acid was studied as interference to the glucose assay. The application of 0V potential versus Ag/AgCl did not avoid the occurrence of the oxidation of ascorbic acid, however, the pre-coating of ascorbate oxidase on the disk part of the ring-disk working electrode efficiently pre-oxidized the ascorbic acid and hence eliminated its interference on the glucose response. The practical reliability was also evaluated by assaying the dialysate from the prefrontal cortex of Wistar rats.

Novel preparation of nanocrystalline magnesia-supported caesium-promoted ruthenium catalyst with high activity for ammonia synthesis.

A caesium-promoted ruthenium catalyst supported on nanocrystalline magnesia with high activity for ammonia synthesis was conveniently prepared by using hydrated ruthenium trichloride and hexahydrate magnesium nitrate as precursors, whereas dechlorination post-treatment and ready-made magnesia were not necessary.