Female CYBB Mutation Mosaicism Leading to Inheritance of X-linked Chronic Granulomatous Disease / 罕见病研究

Chronic granulomatous disease (CGD) is a heterogeneous primary immunodeficiency characterized by severe bacterial and fungal infections and tissue granuloma formation early in life. Diagnosis of CGD involves the granulocyte function assays and gene mutation analysis. X-linked CGD (XL-CGD) caused by gene defects of CYBB is the most prevalent type of CGD. The clinical data and gene characteristics of a rare female X-chromosome mosaicism leading to inheritance of XL-CGD were reported here. The patient is a 7-year-old boy manifested as recurrent lower respiratory tract infection and failed to thrive. The patient had a history of osteo- myelitis and perianal abscess, with Bacille Calmette-Guérin (BCG) vaccine complications. Respiratory burst of neutrophils was measured with DHR oxidation assay and the histogram showing no significant change in neutrophil fluorescence after stimulation of the patient and the mother's histogram had a pattern of 2 peaks after stimulation. A heterozygous mutation in the CYBB gene (c.866G > A, p.W289X) was identified through inheritance from the patient's mother. Genetic analysis from blood and cheek mucosal cells indicated the female was a mosaicism in CYBB with mutation was present in about 19.5% of her leukocytes. We reported the clinical data and gene characteristics of a rare female X-chromosome mosaicism leading to inheritance of XL-CGD for the first time in China to enrich the understanding of XL-CGD and provide new sights for the hereditary counseling.

Pathogenesis based Precision Therapy for Inborn Errors of Immunity / 罕见病研究

Precision medicine aims at using target therapy on specific diseases by studying the pathogenesis and finding biomarkers. Inborn errors of immunity (IEI) are caused by single gene mutations, providing the perfect human models to study immunology. The technology rapidly developes recently, so scientists have a deeper understandings of the phenotypes, genotypes, and the biological targets, so that doctors are able to use precision medicine on IEIs with many successful cases. The precision medicine have advantages in the treatment of pathogenesis of diseases. This article summarizes successful cases of using precision medicine for IEI recently.

Family sex education and associated factors among preschoolers in Wuhu / 中国学校卫生

Objective@#To understand the status of family sex education and associated factors among preschoolers in Wuhu, providing scientific basis for child family sex education.@*Methods@#From July to August 2020, random cluster sampling was used to select 481 children from 5 kindergartens in Wuhu. A questionnaire survey among parents of these preschoolers regarding family sex education status and its influencing factors.@*Results@#A total of 285(59.25%) parents reported family sex education for children, and 196(40.75%) did not practice family sex education for their children. Multivariate Logistic regression analysis showed parental awareness of sex education content(OR=3.06, 95%CI=1.95-4.78), parental anxiety for child sexual assault (OR=1.82, 95%CI=1.11-2.99) were associated with higher rate of family sex education.@*Conclusion@#Family sex education among preschoolers in Wuhu should be further promoted. Sex education training towards parents might help improve children s family sex education.

Therapeutic Effects of Curcumin Nanoemulsions on Prostate Cancer / 华中科技大学学报（医学）（英德文版）

The therapeutic potential of curcumin (Cur) is hampered by its poor aqueous solubility and low bioavailability.The aim of this study was to determine whether Cur nanoemulsions enhance the efficacy of Cur against prostate cancer cells and increase the oral absorption of Cur.Cur nanoemulsions were developed using the self-microemulsifying method and characterized by their morphology,droplet size and zeta potential.The results showed that the cytotoxicity and cell uptake were considerably increased with Cur nanoemulsions compared to free Cur.Cur nanoemulsions exhibited a significantly prolonged biological activity and demonstrated better therapeutic efficacy than free Cur,as assessed by apoptosis and cell cycle studies.In siru single-pass perfusion studies demonstrated higher effective permeability coefficient and absorption rate constant for Cur nanoemulsions than for free Cur.Our study suggested that Cur nanoemulsions can be used as an effective drug delivery system to enhance the anticancer effect and oral bioavailability of Cur.

Effects of Capsaicin on Rat Cytochrome P450 Isoforms by Cocktail Probe Drug Method / 中国药师

Objective:To investigate the in vitro effect of capsaicin on four major rat cytochrome P450 ( CYP) enzymes using a cocktail probe drug method. Methods:The in vitro incubation was divided into capsaicin group and the control group. Rat liver micro-somes, probe drugs, capsaicin at various concentration ( buffer solution in the control group) and cofactors were cultured altogether for 20 min. After the culture, the concentration of metabolites was determined by HPLC to assess the activities of enzymes. IC50 value of capsaicin on every isoform was calculated using Graphpad prism 5. 0. Capsaicin and hepatic microsomess were pre-incubated respec-tively for 0, 5, 10, 15, 20 and 30 min, and then the relative activity of the four isoforms at different time was calculated. Results:The activity of the rat liver microsomes enzyme CYP450 isoforms (CYP1A2, CYP2C11, CYP2E1 and CYP3A2) was all inhibited by capsaicin in vitro with IC50 value of 36. 21, 17. 19, 51. 64 and 18. 86 μmol·L-1 , respectively. Pre-incubation could not increase cap-saicin inhibitory activity against the four CYP enzymes. Conclusion:Capsaicin shows inhibition on CYP1A2, CYP2C11, CYP2E1 and CYP3A2 in rat liver microsomes in vitro without pre-incubation time-dependent property.

Directed forgetting: an ERP research on postgraduate / 中华行为医学与脑科学杂志

Objective To investigate neural correlates of directed forgetting. Methods ERP was recorded from 12 healthy postgraduates while they performed a directed forgetting task based on the item-cueing method. During the study phase, each word was followed by a cue indicated that it need to be remembered, to be forgotten or just to be viewed. During the test phase, subjects were asked to make an old/new recognition response. One-way ANOVA of repeated-measurement and paired comparisons were carried out for the cue factor. Results Both of the accuracy and reaction time of the TBR group were significantly superior to those of the other two groups. No significant behavioral effect was found between the TBF group and the TBV group. In the study phase, statistical parametric mapping of ERP suggested the cue effects were presented in the frontal poles ( 200～300 ms ) and the parietal regions (300～400 ms) ,the left fronto-parietal and the right occipital region (450～700 ms). The difference between the TBF and the TBV was significant in the left parietal area (500～525 ms) and has the significant trend in the right frontal area ( 350～600 ms). In the retrieval phase, the old/new effects of ERP occurred in the left fro-nto-temporal (300～450 ms) for the TBF cue. Conclusions The TBF cue and the TBV cue have the equivalent behavioral performance. During the study period, the activation of the right frontal lobe and the left parietal suggests the active inhibition evoked by the TBF cue. And the TBR cue can enhance the rehearsal function of left hemisphere and improve the memory performance of words. The retrieval of the items of TBF is based on more familiarity and less recollection.