Complex heterozygous mutations in hereditary spherocytosis: A case report.

BACKGROUND: The aim of this study was to investigate the complex heterozygous mutations of ANK1 and SPTA1 in the same individual and improve our understanding of hereditary spherocytosis (HS) in children. We also hope to promote the application of gene detection technology in children with HS, with the goals of identifying more related gene mutations, supporting the acquisition of improved molecular genetic information to further reveal the pathogenesis of HS in children, and providing important guidance for the diagnosis, treatment, and prevention of HS in children. CASE SUMMARY: A 1-year and 5-month-old patient presented jaundice during the neonatal period, mild anemia 8 months later, splenic enlargement at 1 year and 5 months, and brittle red blood cell permeability. Genetic testing was performed on the patient, their parents, and sister. Swiss Model software was used to predict the protein structure of complex heterozygous mutations in ANK1 and SPTA1. Genetic testing revealed that the patient harbored a new mutation in the ANK1 gene from the father and a mutation in the SPTA1 gene from the mother. Combined with the clinical symptoms of the children, it is suggested that the newly discovered complex heterozygous mutations of ANK1 and SPTA1 may be the cause, providing important guidance for revealing the pathogenesis, diagnosis, treatment, and promotion of gene detection technology in children with HS. CONCLUSION: This case involves an unreported complex heterozygous mutation of ANK1 and SPTA1, which provides a reference for exploring HS.

Surface modification of polypropylene microporous membrane to improve its antifouling characteristics in an SMBR: N2 plasma treatment.

Fouling is the major obstacle in membrane processes applied in water and wastewater treatment. The polypropylene hollow fiber microporous membranes (PPHFMMs) were surface modified by N(2) low-temperature plasma treatment to improve the antifouling characteristics. Morphological changes on the membrane surface were characterized by field emission scanning electron microscopy (FE-SEM). The change of surface wettability was monitored by contact angle measurements. The static water contact angle of the modified membrane reduced obviously; the relative pure water flux of the modified membranes increased with the increase of plasma treatment time. To assess the relation between plasma treatment and membrane fouling in a submerged membrane bioreactor (SMBR), filtration of activated sludge was carried out by using synthetic wastewater. After continuous operation in the SMBR for about 90 h, flux recoveries for the N(2) plasma-treated PPHFMM for 8 min were 62.9% and 67.8% higher than those of the virgin membrane after water and NaOH cleaning. The irreversible fouling resistance decreased after plasma treatment.