Objective To discuss how to plot a power function graph and draw power function graphs corresponding to common quality control rules to assist medical laboratories in selecting quality control rules.Methods Commonly used quality control rules in clinical laboratory testing in China were collected,power function graphs based on the Monte Carlo method were plotted,and the simulation results with existing results were compared and tested the reliability of the method.Results The Monte Carlo method could be used to easily plot power function graphs for the most complex quality control rules such as 13s/22s/R4s/41s/8(x-).This method had a high level of accuracy,but the accuracy and precision were positively correlated with the number of simulations.In terms of statistical proportions of seven commonly used quality control rules,the 13s/22srule had the highest usage proportion,followed by the 13s/22s/R4s.The power function graph corresponding to the 13s/22s/R4s/41s/10(x-) rule was plotted,and the sigma level lines were marked to assist the laboratory in selecting quality control rules.Conclusion The Monte Carlo method accurately plotted power function graphs,and medical laboratories could use this method to independently plot efficiency function graphs to meet quality control requirements.

Objective This article aimed to explore the inhibitory effect of β-ionone(BI)on the proliferation of breast canc-er cells through the nuclear factor kappa-B(NF-κB)pathway and its possible mechanism.Methods The methylene blue assay and MTT assay were used to determine the viability of breast cancer cells.The malachite green phosphate assay was used to detect the ac-tivity of protein phosphatase 2A(PP2A).Western blot was used to detect the levels of phosphorylated P65(s534 and s311)(p-P65),PP2A(A,B and C),and phosphorylated ataxia telangiectasia mutant(p-ATM)(s1981)protein.Results BI could significant-ly inhibit the proliferation of human breast cancer BT549 cells and MCF-7 cells in a time-and dose-dependent manner,and the difference was statistically significant(P<0.01).After treated with BI,NF-κB activity was significantly inhibited in MCF-7 cells,as shown by a significant decrease in the level of phosphorylated P65(s311 and s534)protein and an increase in the level of PP2A pro-tein,and the difference was statistically significant(P<0.05).In addition,BI also significantly reduced the phosphorylation of P65 protein and ATM protein in MCF-7 cells by the PP2A inhibitor-okada acid(OA).Conclusion This study shows that BI inhibits the proliferation of breast cancer cells by inhibiting NF-κB activity,and its mechanism may be achieved by increasing PP2A activity to regulate the NF-κB pathway.

Objective:To summarize the clinical and genetic characteristics of children with Menkes disease(MD).Methods:The clinical manifestations, auxiliary examinations and genetic testing results of 15 MD children admitted to the Department of Pediatrics of the Third Affiliated Hospital of Zhengzhou University, Children′s Hospital Affiliated of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from June 2016 to October 2022 were analyzed retrospectively.These children were followed up.Results:All the 15 children were male.The age at onset was ranging from 9 days to 5.5 months.White skin, curly hair, skin laxity, hypotonia and severe developmental delay were found in all children, with epilepsy in 13 children, anemia in 11 children and granulocytopenia in 4 children.The concentration of ceruloplasmin in the serum of MD children was lower than that in healthy children of the same age.The concentration of ceruloplasmin in MD children younger than 3 months was significantly lower than that in healthy children of the same age and MD children older than 3 months.The brain magnetic resonance imaging showed abnormalities in all 15 children.Twelve children showed tortuous intracranial vessels in brain magnetic resonance angiography examinations.All the 15 children had ATP7A gene pathogenic variants, including 4 missense variants(2 cases with c. 2179G>A), 3 frameshift variants, 3 nonsense variants, 3 exon deletions and 2 splice site variants.Among these children, 1 had a novel gene variant that had not been reported so far(c.2968C>T). Conclusions:MD has early onset age and diverse clinical manifestations, but also has characteristic clinical manifestations and applicable auxiliary examinations.Its diagnosis depends on genetic testing.The c. 2179G>A and exon deletions may be hot mutations in Chinese MD patients.

Objective:To explore the relationship between preterm labor with different causes and cerebral perfusion in different regions of interest in very preterm infants.Methods:This was a prospective cohort study. A total of 145 preterm infants with gestational age of 28-31 +6 weeks who were hospitalized in the Neonatology Department of the Third Affiliated Hospital of Zhengzhou University within 24 h after birth from April 2022 to May 2023 were selected for the study, and were categorized into the iatrogenic preterm labor group ( n=55), spontaneous preterm labor with premature rupture of the membranes (PROM) group ( n=47), and spontaneous preterm labor with intact membranes group ( n=43) according to the cause of preterm labor. Cerebral blood flow (CBF) values in the cortex and deep gray matter of different regions of interest (frontal lobe, temporal lobe, parietal lobe, occipital lobe, thalamus, and basal ganglia) were measured using the arterial spin labeling technique in the very preterm infants in each group. One-way analysis of variance, Kruskal-Wallis H test and Bonferroni correction, Chi-square test or Fisher's exact probability method, analysis of covariance, and LSD test were used to compare the differences in CBF among the groups. Results:The differences in the incidence of complications such as cerebral white matter injury, Ⅰ-Ⅱ grade intracranial hemorrhage, and late-onset sepsis during hospitalization among the three groups of preterm infants were not statistically significant (all P>0.05). In the iatrogenic preterm labor group, compared with the spontaneous preterm labor with PROM group, CBF [in units of ml/ (100 g·min)] was higher in regions of interest such as the right temporal lobe [20.5 (16.1-24.6) vs. 17.1 (14.5-23.0)], bilateral parietal lobe [left side: 22.4 (17.1-25.3) vs. 16.9 (14.4-24.1); right side: 23.0 (18.2-27.4) vs. 17.0 (14.0-22.2)], right occipital lobe [22.1 (18.6-29.5) vs. 19.4 (13.7-24.5)], bilateral basal ganglia [left side: 33.0 (29.1-36.3) vs. 24.9 (22.9-33.1); right side: 32.8 (29.0-37.0) vs. 26.1 (22.3-35.0)], and bilateral thalamus [left side: 39.2 (36.0-45.0) vs. 32.6 (25.1-42.2); right side: 38.6 (34.6-44.1) vs. 32.0 (25.4-44.9)] (Bonferroni corrected, all P<0.017). Compared with the spontaneous preterm labor group with intact membranes, CBF in the iatrogenic preterm labor group was higher in the cortex and deep gray matter of regions of interest such as bilateral frontal lobe [left side: 21.4 (18.3-25.3) vs. 17.0 (12.0-22.2); right side: 22.1 (16.7-25.0) vs. 15.9 (12.0-23.3)], temporal lobe [left side: 21.4 (17.0-24.8) vs. 18.4 (14.0-22.0); right side: 20.5 (16.1-24.6) vs. 17.3 (13.3-22.3)], parietal lobe [left side: 22.4 (17.1-25.3) vs. 15.3 (10.4-20.8); right side: 23.0 (18.2-27.4) vs. 15.7 (11.1-23.6)], occipital lobe [left side: 22.7 (18.8-28.4) vs. 18.2 (11.4-23.4); right side: 22.1 (18.6-29.5) vs. 19.6 (14.0-25.8)], basal ganglia [left side: 33.0 (29.1-36.3) vs. 27.7 (19.1-32.4); right side: 32.8 (29.0-37.0) vs. 27.7 (21.5-33.0)] and thalamus [left side: 39.2 (36.0-45.0) vs. 33.9 (26.0-43.7); right side: 38.6 (34.6-44.1) vs. 33.3 (27.8-40.4)] (Bonferroni corrected, all P<0.017). Analysis of covariance revealed that the cause of preterm birth had a significant effect on CBF values in the cortex and deep gray matter of very preterm infants ( P=0.007), and that iatrogenic preterm birth elevated CBF perfusion in the localized cerebral cortex and deep gray matter of very preterm infants as compared to the spontaneous preterm births with PROM group and spontaneous preterm births with intact membranes group (LSD test, all P<0.05). Conclusion:Cerebral blood perfusion in very preterm infants is related to the causes leading to preterm birth, and local cortical and deep gray matter blood perfusion levels in the brain are increased in those with iatrogenic preterm birth compared to spontaneous preterm birth.

Objective:To study the complications and prognosis of extremely premature infants(EPIs) with gestational age (GA) <28 w.Methods:From January 2016 to December 2020, EPIs with GA <28 w admitted to NICU of our hospital were retrospectively studied. Clinical data of the infants and their mothers during pregnancy were reviewed. According to the prognosis, the infants were assigned into the survival group, the death group and the withdrawal group. According to GA, the infants were assigned into <26 w goup, 26~26 +6 w group, ≥27 w group. According to birth weight (BW), the infants were assigned in to ≤750 g group, 750~999 g group and ≥1 000 g group. SPSS 26.0 was used for data analysis. Results:A total of 265 EPIs were included, 122 (46.0%) in the survival group, 47 (17.7%) in the death group and 96 (36.2%) in the withdrawal group. GA and BW of the survival group were significantly higher than the death group and the withdrawal group ( P<0.05). The incidences of tracheal intubation (92.2%) and pulmonary hemorrhage (42.2%) in the death group were the highest among the three groups. The survival group had the highest application of prenatal glucocorticoids (80.3%) and pulmonary surfactants (99.2%) ( P<0.05). In the survival group, the top 3 common complications were bronchopulmonary dysplasia (BPD) (68.0%), pulmonary infections (65.6%) and neonatal sepsis (34.4%). The survival rate increased with GA and BW. Conclusions:The survival rate of EPIs is closely correlated with GA and BW. EPIs with pulmonary hemorrhage and tracheal intubation have poor prognosis. Prenatal glucocorticoids and pulmonary surfactant may improve clinical outcome. BPD and pulmonary infections are common complications of surviving EPIs.

OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG). METHODS: A child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to high-throughput sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the result was analyzed by using bioinformatic software. RESULTS: The child was found to have harbored a hemizygous c.945_948del variant in exon 2 of the ARX gene, which as a frameshifting variant has resulted in a truncated protein. His mother was found to be heterozygous for the variant, whilst his father was of wild type. The variant was unreported previously. CONCLUSION The hemizygous c.945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.
Humans ; Child ; Classical Lissencephalies and Subcortical Band Heterotopias ; Exons ; Computational Biology ; Genetic Counseling ; Genitalia ; Transcription Factors ; Homeodomain Proteins

Objective:To study the influence of periventricular-intraventricular hemorrhage (PVH-IVH) on cerebral blood flow (CBF) of preterm infants in the late postnatal period using arterial spin labeling (ASL) magnetic resonance imaging (MRI).Methods:From January 2023 to June 2023, 65 preterm infants (gestational age <32 weeks, birth weight <1 500 g) who were born in the Department of Obstetrics, Third Affiliated Hospital of Zhengzhou University and transferred to the Neonatal Intensive Care Unit were included in the prospective study.They were examined by the brain MRI and ASL at the corrected gestational age of 35-40 weeks.According to the results of the brain ultrasound within 1 week after birth, they were divided into the mild IVH group (25 cases) and the non-IVH group (40 cases). The CBF values in regions of interest (frontal lobe, temporal lobe, parietal lobe, occipital lobe, thalamus, and basal ganglia) on ASL images were compared.Multiple linear regression analysis was used to analyze the effect of PVH-IVH on CBF values in different ASL regions of interest, including frontal cortex, temporal cortex, parietal cortex, occipital cortex, thalamus, and basal ganglia.Results:Compared with those of non-IVH group, infants in the mild IVH group presented significantly older gestational age [29.0 (28.5, 30.4) weeks vs.28.2 (27.0, 31.0) weeks, Z=-2.398, P=0.016], higher hematocrit (HCT) in the latest examination prior to the brain MRI [29.6(26.4, 32.3)% vs.27.8 (25.6, 30.5)%, Z=-2.155, P=0.031], and larger body weight at the time of examination [2 015.0 (1 930.0, 2 127.5) g vs.1 950.0 (1 900.0, 1 997.5) g, Z=-3.314, P=0.001]. After adjustment for confounding factors of gestational age at birth, latest HCT and weight at the time of examination, the multivariable linear regression analysis showed that CBF values in the frontal lobe (95% CI: -8.367--4.042; P<0.001), temporal lobe (95% CI: -19.077--2.854; P=0.008), parietal lobe (95% CI: -8.344--3.502; P<0.001), occipital lobe (95% CI: -9.446--3.645; P<0.001), basal ganglia (95% CI: -7.543--1.963; P=0.001) and thalamus (95% CI: -8.051--2.372; P<0.001) were significantly lower in infants of the mild IVH group than those of non-IVH group. Conclusions:At the same corrected gestational age, mild IVH is correlated with low CBF values in local cerebral cortex and subcortical gray matter in premature infants.However, the predictive potential of CBF values in long-term neurological prognosis requires further explorations.

γ-Tocotrienol(γ-T3)is a common phytochemical belonging to a major subclass of natural vitamin E,mainly de-rived from palm oil and rice bran.Compared to saturated tocopherol(TOC),the γ-T3 side chain contains unsaturated bonds and forms isoprene chains.γ-T3 has therapeutic activity for various chronic diseases with broad potential applications,especially in inhib-iting tumor proliferation and invasion.With deeply research,more and more evidence suggests that γ-T3 plays an important role in inhibiting cancer cell migration and metastasis,inducing tumor cell apoptosis,arresting cell cycle and regulating cancer-related sig-naling pathways.Therefore,this article will review the anti-cancer effects and mechanisms of γ-T3.

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

Objective:To summarize the clinical manifestations of a case of combined oxidative phosphorylation deficiency 28 (COXPD-28) caused by the mutations of the SLC25A26 gene, thus providing references for the diagnosis and genetic counseling of the disease. Methods:Clinical data of a case of COXPD-28 treated in the Third Affiliated Hospital of Zhengzhou University in October 2020 were retrospectively analyzed.In addition, The retrieval words " Combined oxidative phosphorylation deficiency 28, SLC25A26 gene" were used to search domestic and foreign databases.The clinical characteristics of combined phosphorylation deficiency 28 and the variation characteristics of SLC25A26 gene were summarized. Results:(1) A female patient full-term delivered after 30 min presented with groaning breath was admitted.Her main manifestations included pale complexion, groaning breathing, metabolic acidosis, and high lactate and pyruvate levels.Symptomatic support treatment like anti-infection and assisted ventilation were given, but her condition gradually worsened and died of respiratory and circulatory failure on the day of admission.The child was compound heterozygous mutation of SLC25A26 gene, the terminating mutation of exon 5 c. 403G>T caused the protein change to p. E135, and the non-synonymous mutation of exon 4 c. 212A>G caused the protein change to p. Y71C.(2) A total of 3 cases of COXPD-28 were searched in online databases, and no cases were reported in China.Through literature review, clinical features of COXPD-28 mainly included respiratory and circulatory fai-lure, elevations of lactate and pyruvate, and reductions of complexes Ⅰ, Ⅲ and Ⅳ in muscle biopsy.Two types of mutations in the SLC25A26 gene were detected, including 3 cases of missense mutations and 1 case of splicing mutation. Conclusions:COXPD-28 is an autosomal recessive genetic disease involving multiple systems and mitochondrial dysfunction.Mutations in the SLC25A26 gene is the pathological cause of COXPD-28.