Bcl-2 gene is the human homologous gene of anti-apoptotic gene Ced-9 in c-elegans, which can participate in regulations of cells apoptosis including suppression of neuronal apoptosis in cerebral ischemic penumbra.This review is about Bcl-2 anti-ischemic neuron injury, its possible mechanisms and the effects of anti-ischemic drugs on Bcl-2.

Objective To explore some reasonable ways of anticoagulation for pregnant women with mechanical prosthetic valves.Methods Retrospective analysis was conducted for 27 women with mechanical prosthetic valves who have born children after their cardiac surgeries.Numbers of pregnancies,ages,ways of anticoagulation during pregnancy,ways of anticoagulation before pregnancy,valve thrombosis events,thromboembolism events,bleeding events,outcomes of pregnancy and ways of delivery were collected and studied.Comparing adverse events and outcomes of different ways of anticoagulation which those women used during their pregnancies.Results 27 women with mechanical prosthetic valves experienced 41 pregnancies,and bore 28 children.24 pregnancies used oral low does warfarin(＜ 5 mg/day) to anticoagulate,2 minor bleeding events and 10 early abortion occurred,no abnormal neonates were found,14 healthy neonates were born.6 pregnancies used low-molecularweight heparin to anticoagnlate from 6th week to 12th week,they used oral warfarin to anticoagulate in rest weeks of pregnancy.1 late abortion occurred,1 fetus with hydrocephalus was found at 20th week,then induced labour was conducted.4 healthy neonates were born.11 pregnancies used low-molecular-weight heparin to anticoagulate until delivery,1 early abortion,2 minor bleeding events and 1 valve thrombosis occurred.10 neonates were born,and 1 of them has hypoxic-ischemic encephalopathy,the other 9 neonates were healthy.Conclusion For pregnant women with mechanical prosthetic valves,using oral low does warfarin throughout pregnancy is a reasonable way of anicoagnlation with low risk of maternal and fetal adverse events except high risk of abortion.Low-molecular-weight heparin is hopeful anticoagulant agent for pregnant women with mechanical prosthetic valves,but more studies about its safety and effectiveness should be conducted.

OBJECTIVE To report on the phenotype of an infant with central hypoventilation syndrome (CCHS) and result of PHOX2B gene mutation analysis for the purpose of genetic counseling and prenatal diagnosis. METHODS Clinical data of an infant with CCHS was collected and analyzed. Potential mutation of PHOX2B gene was analyzed by amplified fragment length polymorphism (amp-FLP) and DNA sequencing. RESULTS The patient had typical clinical features of CCHS including frequent hypoventilation during sleeping, hypoxemia and hypercapnia which could be corrected by continuous ventilatory support. She also had repeated bruising and was difficult-to-wean, but without any cardiac, pulmonary, neuromuscular or brainstem lesions. DNA sequencing and amp-FLP of the PHOX2B gene showed that the patient has carried a polyalanine expansion repeat mutation (PARM) in exon 3. A 27 bp duplication was confirmed in the repeat sequence of 20 alanines by cloned and sequenced. This has led to an expansion of the repeat tract to 29 alanines. The genotype was therefore 20/29. CONCLUSION A patient with CCHS has been described. Mutation screening of PHOX2B gene can be used as an important support for diagnosis and genetic counseling for such patients.
Female ; Homeodomain Proteins ; genetics ; Humans ; Hypoventilation ; congenital ; genetics ; Infant, Newborn ; Mutation ; Sleep Apnea, Central ; genetics ; Transcription Factors ; genetics