A case report: Alport syndrome and growth hormone deficiency associated with a new COL4A4 mutation.

Background: Alport syndrome (AS) is a rare progressive hereditary kidney disease that is clinically principally associated with hematuria, proteinuria, and progressive renal dysfunction. This condition not only impairs renal function but also potentially affects auditory and ocular health, significantly impacting the patient's quality of life. Case Description: This article reports a young girl with AS, combined with dwarfism attributable to growth hormone (GH) deficiency, diagnosed at Wenzhou People's Hospital in 2019. The clinical data and diagnostic steps were retrospectively analyzed. Genetic testing showed that she carried a new mutation in the COL4A4 gene, c.2317_2318delAG (p.R773Gfs*14), classified as "pathogenic" under the criteria of the American College of Medical Genetics and Genomics (ACMG), confirming her AS diagnosis. Significantly, the patient's height was more than two standard deviations (SDs) below the average for children of her race, sex, and age. The peak GH level post-stimulation was below 5 ng/mL, coupled with a growth rate of less than 5 cm/year, leading to the diagnosis of GH deficiency. Consequently, recombinant human GH (rhGH) therapy was initiated. Conclusions: After a year of rhGH treatment, we observed a notable increase in her height, without any adverse effects like elevated intracranial pressure, hypothyroidism, or worsening kidney function.

A continuation-dynamic constitution analysis approach based on digital stable marker tracing and study on simulation of ecological tidal water diversion.

Water Diversion Projects have become increasingly popular in improving water quality in various water ecosystems. However, these projects also require a more comprehensive evaluation. In this study, we introduced a digital stable marker tracing module and proposed a continuation-dynamic constitution analysis approach. We applied this approach to analyze the ecological tidal water diversion in Changshu town, China. The results showed that the mean diversion water age of the Yangtze River water source was 10.80 h, the residence time of the background water source in Baimaotang was approximately 4.0 h, and the contribution of inflow water sources from tributaries accounted for 15% of discharges. The results can demonstrate practicality of our approach in quantitatively evaluating water diversion impacts and optimizing cooperative diversion projects. Furthermore, our discussion led to the design of an ecological tidal water diversion based on optimized cooperative diversion, which showed element-complementary and whole-comprehensive effects. This indicates that the ecological tidal water diversion can extend the impact of cooperative diversion. The continuation-dynamic constitution analysis approach enhances the tracing capacity of inflow constitution and enables the distinction of different time-varying distributions of each inflow constitution. Therefore, this approach holds promise as an embedded "Digital stable marker tracing" module in the model.

Characterization and Biological Evaluation of Diterpenoids from Casearia graveolens.

Biologically active substances that promote the neurite outgrowth of nerve cells against neuron degeneration may be useful for the treatment of Alzheimer's disease. In a continuing search for bioactive compounds from plants, an ethyl acetate-soluble extract of the twigs of Casearia graveolens showed moderate stimulatory activity of neurite outgrowth from PC12 cells. Further investigation to obtain bioactive compounds led to the isolation of 10 new clerodane diterpenoids, graveopenes A-J (1-10). Their structures including absolute configurations were elucidated based on analysis of their NMR spectroscopic data and experimental and calculated ECD spectra. Compounds 3-6 and 8 were shown to stimulate NGF-mediated neurite outgrowth from PC12 cells.

Absolute Configurations and NO Inhibitory Activities of Terpenoids from Curcuma longa.

Curcuma longa L., belonging to the Zingiberaceae family, is a perennial herb and has been used as a spice and a pigment in the food industry. In the ongoing search for inhibitory reagents of NO production and survey of the chemical composition of natural vegetable foods, the chemical constituents of C. longa used as spice were investigated. This investigation resulted in the isolation of 2 new terpenoids and 14 known analogues. Their structures were established on the basis of the extensive analyses of 1D and 2D NMR spectroscopic data, and the absolute configurations of 1-4 were elucidated by comparison of the calculated and experimental ECD spectra. Among them, compound 1 is a rare norditerpene with an ent-labdane skeleton, and 2 is a skeletally novel sesquiterpene having an eight-membered ring. All of the compounds were found to possess NO inhibitory activities in murine microglial BV-2 cells. The discovery of two new compounds in this chemical investigation further disclosed the chemical composition of C. longa used a food spice, and the bioassay implied that the natural food spice C. longa, containing terpenoids with NO inhibitory activities, may be potentially promotive to human health.