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The clinical manifestations, biochemical parameters and imaging examination, genetic test results, and treatment of 3 cases of X-linked adrenoleukodystrophy(X-ALD) patients were reviewed and analyzed, and the structure of adrenoleukodystrophy protein(ALDP) was analyzed. All 3 patients were male. Patients 1 and 2 were childhood cerebral ALD(CCALD), patients 3 was adrenomyeloneuropathy(AMN), and all of them were misdiagnosed at early stage. Brain magnetic resonance imaging(MRI), and hematologic examinations showed the neurological demyelination of X-ALD, adrenocortical insufficiency, and accumulation of very long chain fatty acids(VLCFAs). Sequencing of ABCD1 gene revealed 3 new pathogenic mutations[c.910delins22(p.A304delins8), c. 887A>C(p.Y296S), and c. 1451_1481del(p.P484fs)], which affected the key structure of ALDP and led to the disease. Patients 1 and 2 received hematopoietic stem cell transplantation, and their condition continued to progress after surgery. Patient 3 was in stable condition. The misdiagnosis rate of X-ALD is high, clinicians should be vigilant. In this study, 3 new mutations were found, which expanded the ABCD1 gene mutation spectrum in patients with X-ALD. It is important to note that early identification and early diagnosis of X-ALD should be made to reduce misdiagnosis and mistreatment.
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This article reported a rare case of harlequin ichthyosis which was indicated with multiple structural abnormalities by prenatal ultrasound and diagnosed by trio-based whole-exome sequencing (Trio-WES). Prenatal diagnosis was performed because the ultrasound at 24 +4 gestational weeks revealed the fetus presenting with eclabium, flattened nose, short mandible, small auricle and abnormal posture of the toes. Copy number variation sequencing (CNV-seq) showed no chromosome aneuploidy or pathogenic copy number variants over 100 kb in the fetal or parental samples. Trio-WES showed that the fetus carried two heterozygous mutations, c.2593-1G>A and c.7444C>T in ABCA12. Sanger sequencing confirmed that c.2593-1G>A, a previously unreported variant, was paternally inherited and c.7444C>T was maternally inherited. Both parents had normal phenotype. The fetus was finally diagnosed with harlequin ichthyosis. After prenatal counseling, the parents made an informed choice to terminate the pregnancy at 28 +4 gestational weeks. The stillborn fetus showed multiple malformations The variants in this case expand the spectrum of variants in ABCA12 gene.
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Objective:To explore the effect of follow-up information platform combined with full-course health education on compliance and cardiac function in patients with chronic heart failure.Methods:A total of 150 patients with chronic heart failure treated in He′nan People′s Hospital between November 2018 and November 2019 were selected for study. Patients were divided into observation group and control group by random number table method, and each group had 75 cases. The control group received routine health education intervention, and the observation group implemented follow-up information platform combined with full-course health education intervention. The intervention time was 6 months, and then the compliance behavior, cardiac function and quality of life of the two groups of patients were compared.Results:The overall compliance rate of the observation group was significantly higher than that of the control group ( Z value was -5.634, P<0.01), and the total compliance rate of the observation group was 92.00% (69/75), which was significantly higher than 74.67% (56/75) of the control group ( χ2 value was 8.112, P<0.01). After the intervention, both the 6-minute walking test and the left ventricular ejection fraction in the observation group were (482.75±81.45) m, (48.34±6.10)%], which were significantly higher than (406.92±68.20) m, (39.61±5.73) % of the control group ( t values were 6.182, 9.034, P<0.01). After the intervention, the physical limitation, psychological mood, disease symptoms, and social relationship scores of the observation group patients were (11.00±1.58), (10.06±1.55), (6.06±1.29), and (5.09± 1.14) points, which were significantly lower than (17.15±1.90), (11.79±1.55), (9.52±1.23), and (8.09±1.02) points of the control group ( t values were 6.835-21.533, P<0.01). Conclusion:Compared with conventional health education, the whole course of health education combined with the follow-up information platform is beneficial to improve the compliance rate, quality of life and cardiac function of patients with chronic heart failure.
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Objective To investigate the relationship between adiponectin combined with the ultrasound blood flow index of the umbilical artery and perinatal outcome in women with severe preeclampsia. Methods Placental tissues were obtained from normal term pregnancies (control group, n=50) and severe preeclampsia patients (PE group, n=50) in Third Affiliated Hospital of Zhengzhou University from February 2014 to October 2014. The expression of adiponectin was examined using immunohistochemical methods and real-time polymerase chain reaction. The umbilical artery was measured by color Doppler, and the umbilical artery systolic/diastolic ratio (UA-S/D), umbilical artery resistance index (UA-RI) and umbilical artery pulsatility index (UA-PI) were determined. The relationship between the expression of adiponectin in placental tissues, UA-S/D and perinatal outcome were analyzed. The data were analyzed using two dependent-sample t test, the log-rank test and Spearman correlation analysis. Results Compared with the control group, infants in the PE group had lower birth weight and placental weight, shorter height, and greater umbilical artery indices including UA-S/D, UA-RI and UA-PI (all P<0.05). The expression of adiponectin and its mRNA in placentae of the PE group was significantly higher than that of the control group (adiponectin: 0.326±0.011 vs. 0.116±0.011, t=99.144, P=0.000;mRNA:4.18±1.80 vs. 1.00±0.51, t=11.985, P=0.000). UA-S/D had a negative correlation with birth weight, onset gestational age and gestational age at birth (r= - 0.897, - 0.469 and - 0.524, all P<0.01). The expression of adiponectin mRNA had a negative correlation with birth weight, onset gestational age, and gestational age at birth (r=-0.580,-0.407 and-0.449, all P<0.01). The expression level of adiponectin had positive correlations with body mass index of the mothers and the UA-S/D (r=0.261 and 0.788, both P<0.01). Conclusions The expression of adiponectin in placental tissues and blood flow index of the umbilical artery both increase in severe preeclampsia, and are associated with poor perinatal outcome.
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Objective To explore the relationship between the Interleukin 6 , matrix metalloproteinases 2 and early embryo arrest. Methods Real time-PCR was used to measure the mRNA expression of IL-6 and MMP-2 and immunohistochemistry (IHC, SP method)was used to measure the location and expression of the two different kinds of protein in villus. ELISA was used to measure the level of IL-6 in serum. Results Real-time PCR and IHC showed that the expression levels of IL-6 was significantly lower in experimental group than in control group, and MMP-2 was significantly higher than the control group (P 0.05). Conclusion Proper expressions of IL-6 and MMP-2 in the villus tissue play a key role in the maintenance of early pregnancy.