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.

Influence of physiological and supraphysiological hyperinsulinemia on skin microcirculation in healthy volunteers

AIM:To examine skin perfusion in dependency on insulinemia in healthy subjects.METHODS:All volunteers were informed in detail about the procedures and signed informed consent.The protocol of this study was approved by the ethical committee.In our study,a two stage hyperinsulinemic euglycemic clamp was performed,with insulinemia 100and 250 mIU/mL and glycemia 5.0 mmol/L(3%standard deviation).Before the clamp and in steady states,microcirculation was measured by laser Doppler flowmetry and transcutaneous oximetry and energy expenditure was measured by indirect calorimetry.Results(average and standard deviation)were evaluated with pairedt-test.RESULTS:Physiological(50 mIU/L)insulinemia led to higher perfusion in both tests;hyperemia after heating to 44%-1848%(984-2046)vs 1599%(801-1836),P<0.05,half time of reaching peak perfusion after occlusion release 1.2 s(0.9-2.6)vs 4.9 s(1.8-11.4),P<0.05.Supraphysiological(150 mIU/L)insulinemia led to even higher perfusion in both tests;hyperemia after heating to 44%-1937%(1177-2488)vs 1599%(801-1836),P<0.005,half time to reach peak perfusion after occlusion release 1.0 s(0.7-1.1)vs 4.9 s(1.8-11.4),P<0.005.A statistically significant increase occurred in tissue oxygenation in both insulinemia.The difference in perfusion and oxygenation between physiological and supraphysiological hyperinsulinemia was not statistically significant.CONCLUSION:The post occlusive hyperemia test in accordance with heating test showed significantly increasing skin perfusion in the course of artificial hyperinsulinemia.This effect rises non-linearly with increasing insulinemia.Dependency on the dose was not statistically significant.

Significance of the Expression of Rho-GDP Dissociation Inhibitor β,γ in Lung Squamous Cell Carcinoma and Adenocarcinoma

Objective： To study the expression of Rho-GDP dissociation inhibitor β,γ （Rho-GDIβ, Rho-GDIγ） in lung squamous cell carcinoma and adenocarcinoma and its relationship with the expression of RhoC （Ras homologus oncogenes C） and clinicopathologic parameters. Methods： Western blot assay was employed for Rho-GDIβ, Rho-GDIγand RhoC in lung squamous cell carcinoma and adenocarcinoma and non-neoplastic lung tissues of 37 cases with fresh specimens. Results： The study showed that Rho-GDIβ, Rho-GDIγ and RhoC were expressed in lung cancer and non-neoplastic lung tissues, the level in lung cancer tissue was much higher than that in non-neoplastic tissues （P〈0.001）. In lung cancer, the expression of Rho-GDIβwas much higher in patients with lymph node metastasis （P=0.021）, and the expression of Rho-GDIγ was much higher in poorly differentiated tumor than in well-differentiated and moderately differentiated tumor, but both of them were not correlated with other clinicopathologic parameters. The expressions of Rho-GDIβ and Rho-GDIγ were not correlated with the expression of RhoC. Conclusion： In lung cancer, Rho-GDIβand Rho-GDIγ may play a role in the tumorigenesis, Rho-GDIβ may promote metastasis, and Rho-GDIγ may have some relationship with differentiation.

Detection of biomarkers in children with Wilms＇ tumor using proteinchip technology

Wilms＇ tumor is the most common pediatric tumor of the kidney. The most important factor affecting long term survival of this malignancy is recurrence after surgery. Early diagnosis, treatment and regular follow-up are critical to prevent recurrence and improve long-term survival rate. Currently,

Targeting gut microbiota in type 2 diabetes mellitus:Potential roles of dietary flavonoids

Type 2 diabetes mellitus(T2DM)is a common endocrine and progressive metabolic disorder disease,which seriously threatens peoples’lives and health.Due to the high cost of clinical treatments and obvious side effects,looking for effective bioactive ingredients in the diet is an important strategy to prevent or even reduce the risk of diabetes.Epidemiological studies have suggested that dietary flavonoids have a potential antidiabetic effect,but the underlying mechanism remains unclear.Accumulating evidences indicates that gut microbiota has become an important target of dietary interventions.It plays essential roles in the digestion and absorption of flavonoids and affects the occurrence and progression of T2DM.This review systematically summarized the progress of dietary flavonoids targeting gut microbiota to ameliorate T2DM and analyzed possible molecular mechanisms.It suggests that flavonoids may prevent T2DM for healthy people and ameliorate health situations for T2DM patients.In addition,microbiota-based nutrition aims to provide personalized nutritional guidance to alter an individual’s microbiota and further improve response to dietary flavonoids,which will benefit to achieve a more effective diet for the prevention and management of T2DM.