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Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease. Clinically, no efficient assay protocols have been available. In this study, we aimed to develop an oligonucleotide biochip specialized for detection of known base substitution mutations in mitochondrial DNA causing LHON and to investigate frequencies of LHON relevant variants in Anhui region of China. Thirty-two pairs of oligonucleotide probes matched with the mutations potentially linked to LHON were covalently immobilized. Cy5-lablled targets were amplified from blood DNA samples by a multiplex PCR method. Two kinds of primary mutations 11778 G > A and 14484 T > C from six confirmed LHON patients were interrogated to validate this biochip format. Further, fourteen Chinese LHON pedigrees and twenty-five unrelated healthy individuals were investigated by the LHON biochip, direct sequencing and pyrosequencing, respectively. The biochip was found to be able efficiently to discriminate homoplasmic and heteroplasmic mtDNA mutations in LHON. Biochip analysis revealed that twelve of eighteen LHON symptomatic cases from the 14 Chinese pedigree harbored the mutations either 11778G > A, 14484T > C or 3460G > A, respectively, accounting for 66.7%. The mutation 11778G > A in these patients was homoplasmic and prevalent (55.5%, 10 of 18 cases). The mutations 3460G > A and 3394T > C were found to co-exist in one LHON case. The mutation 13708G > A appeared in one LHON pedigree. Smaller amount of sampling and reaction volume, easier target preparation, fast and high-throughput were the main advantages of the biochip over direct DNA sequencing and pyrosequencing. Our findings suggested that primary mutations of 11778G > A, 14484T > C or 3460G > A are main variants of mtDNA gene leading to LHON in China. The biochip would easily be implemented in clinical diagnosis. [ABSTRACT FROM AUTHOR]

Background: After the two-child policy is fully implemented, new challenges regarding pregnancy management and the treatment of pregnancy complications will arise. The aim of this study was to analyze the characteristics of pregnancy and delivery before and after the implementation of the two-child policy to make suggestions on the quality assurance of the new era of obstetrics., Methods: In total, 5895 cases of pregnant women who delivered from April 2016 to March 2017 in Peking University Third Hospital served as the study group and 5103 cases of pregnant women who delivered from January to December 2015 served as the control group. The characteristics of pregnancy and delivery were retrospectively analyzed., Results: In the study group, the percentage of pregnant women who were older (over 40 years) (3.6% vs. 2.2%), were multipara (30.3% vs. 17.0%), received irregular prenatal care (1.5% vs. 0.9%), were transferred for treatment from a subordinate hospital (4.4% vs. 2.8%), and were not residents of Beijing (3.8% vs. 2.2%), were significantly increased compared with the control group (P < 0.05). In the study group, the rate of a hypertensive disorder complicating pregnancy (6.4% vs. 5.0%), gestational diabetes mellitus (25.3% vs. 23.1%), dangerous placenta previa (3.0% vs. 2.3%), placental implantation (2.4% vs. 1.8%), and severe postpartum hemorrhage (2.8% vs. 1.9%) was significantly increased compared with the control group (P < 0.05). In the study group, the cesarean section rate during primipara was significantly reduced compared with the control group (42.0% vs. 44.2%). However, the rate during multipara was significantly increased compared with the control group (P < 0.05). Indications for cesarean section in the study group as well as the percentages of scared uterus and placenta previa were significantly increased compared with the control group (P < 0.05)., Conclusions: According to the current situation, better methods are needed to strengthen pregnancy and delivery management, reduce the rate of cesarean section, and ensure a positive outcome for mothers and babies.

Background: Evaluation of the severity of the pregnant women with suitable admission to the Intensive Care Unit (ICU) is very important for obstetricians. By now there are no criteria for critically ill obstetric patients admitted to the ICU. In this article, we investigated the admission criteria of critically ill patients admitted to the ICU in order to provide a referral basis of reasonable use of the ICU., Methods: A retrospective analysis of critically ill pregnant women admitted to the ICU in Perking University Third Hospital in China in the last 6 years (from January 2006 to December 2011) was performed, using acute physiology and chronic health evaluation II (APACHE-II), Marshall and WHO near miss criteria to assess the severity of illness of patients., Results: There were 101 critically ill pregnant patients admitted to the ICU. Among them, 25.7% women were complicated with internal or surgical diseases, and 23.8% women were patients of postpartum hemorrhage and 23.8% women were patients of pregnancy-induced hypertension. Sixty-nine cases (68.3%) were administrated with adjunct respiration with a respirator. Sixteen cases (15.8%) required 1-2 types of vasoactive drugs. Fifty-five cases (54.5%) required a hemodynamic monitoring. Seventy-three cases (72.3%) had multiple organ dysfunctions (MODS). The average duration in ICU was (7.5 ± 3.0) days. A total of 12.9%, 23.8% and 74.3% of women were diagnosed as critically ill according to the APACHE-II, Marshall and WHO near miss criteria, respectively. The rate was significantly different according to the three criteria (P < 0.01)., Conclusions: The WHO near miss criteria can correctly reflect the severity of illness of pregnant women, and the WHO near miss criteria are appropriate for admission of critically ill pregnant women to ICU in China.