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 clinical value of low molecular weight heparin(LMWH) plus low dose aspirin(LDA) in preventing twin pregnancy with preeclampsia high risk factors. Methods: From January 2013 to December 2017, the twin pregnancy cases with preeclampsia high risk factors who were diagnosed in Shanxi Rongjun Hospital were randomly divided into two groups according to the order of the treatment.The observation group(n=53) used LMWH plus LDA to prevent preeclampsia, while the control group(n=53) used LDA alone.The incidence of preeclampsia and pregnancy outcome were compared between the two groups. Results: The incidence of severe preeclampsia in the observation group(5.7%) was lower than that in the control group(18.9%)(χ²=4.296, P<0.05), and there was statistically significant difference in the delivery time between the two groups(χ²=7.993, P<0.05). While the incidence of preeclampsia, placental abruption, postpartum hemorrhage and FGR between the two groups had no statistically significant differences (all P>0.05). The proportion of NICU transferred fetus in the observation group(18.3%) was lower than that in the control group(30.7%)(χ²=4.289, P<0.05). There were no statistically significant differences in perinatal mortality and neonatal asphyxia(all P>0.05). Conclusion Compared with using the LDA alone, LMWH plus LDA prevention can effectively reduce the incidence of severe preeclampsia in twin pregnancies; at the same time, it also can delay the delivery time and reduce the rate of NICU transferred.