Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants.

BACKGROUND: CYP27A1 is the disease-causing gene of cerebrotendinous xanthomatosis (CTX). As a treatable lipid storage disease, early treatment can improve the prognosis. However, CTX patients reported in the literature are mostly adult patients; the phenotype spectrum of CTX in the infantile population remains elusive. OBJECTIVE: We aimed to investigate the phenotype spectrum of infants who carried pathogenic or likely pathogenic variants in the CYP27A1 gene and were suspected of having CTX. METHODS: From June 2014 to May 2020, infants with pathogenic or likely pathogenic variants in CYP27A1 gene were enrolled, who underwent next-generation sequencing or Sanger sequencing in Children's Hospital of Fudan University. Patient characteristics, clinical treatments and outcomes were extracted from electronic medical records. RESULTS: A total of 17 patients with an average onset age of 8 (1-42) days were found. The average diagnosis age was ten months. Cholestasis was the dominant symptom of these infants. Thirteen variants were detected, of which c.379C > T was a hotspot variant (26.5% alleles, 9/34). Cholestatic CTX is usually underestimated, but it could be severe or even fatal in infancy. For outcomes, 5 suffered from liver failure (36%, 5/14), 1 still showed cholestasis (7%, 1/14), 7 were asymptomatic (50%, 7/14), and 1 presented seizure and developmental delay in later childhood (7%, 1/14). CONCLUSION: Based on this infantile cohort, we concluded that it is necessary to consider the possibility of CTX caused by CYP27A1 gene variants for infants with cholestasis.

Physicochemical properties and bioactivities of original and Se-enriched polysaccharides with different molecular weights extracted from Pleurotus ostreatus.

Three polysaccharides (WZP1, WZP2, WZP3) and their Se-enriched products (SeWZP1, SeWZP2 and SeWZP3) were obtained from Pleurotus ostreatus using a simple, rapid method and HNO3-Na2SeO3 method, respectively. The molecular weight distribution profiles of all samples except SeWZP2 showed double peaks. The average molecular weights (Mw) of WZP1-3 were 48.6 kDa, 20.2 kDa and 11.8 kDa, respectively, and of SeWZP1-3 were 19.6 kDa, 37.7 kDa, 14.5 kDa, respectively. The complexity of monosaccharide composition of WZP1-3 was inversely proportional to the ethanol concentration used in the ethanol precipitation process. Additionally, the results of biological activity tests indicated that α-glucosidase inhibitory activity of WZP1-3 was related to the molecular weight and the monosaccharide composition complexity. The selenized modification can improve the α-glucosidase-inhibiting, hydroxyl radical-scavenging activity of P. ostreatus polysaccharides. Therefore, by improving their bioactivities by selenization, the polysaccharides of P. ostreatus could be utilized as a natural health food supplement.

[Study progress of special AT-rich sequence binding protein 2].

SATB2 is a transcription factor, which plays an important role in transcriptional regulation and chromatin recombinant by combining with matrix attachment regions. SATB2 is a key regulatory molecule in the progress of osteoblast differentiation and bone matrix formation. Mutations in this gene are associated with congenital craniofacial malformation. In addition, SATB2 is involved in the development of central nervous system, especially the corpus callosum and the pons. At the same time, SATB2 may participate in the process of tumor formation. In malignant tumors, such as breast cancer, the expression level of SATB2 is higher than normal. The literatures of SATB2 were reviewed in this article.