妊娠期肝内胆汁淤积症患者与新生儿MDR3基因突变分析

目的 评价中国人群中多药耐药蛋白3(MDR3)基因在妊娠期肝内胆汁淤积症(ICP)发病机制中的遗传作用.方法 对65对患有ICP的产妇与女性新生儿抽取外周血DNA进行聚合酶链反应扩增MDR3的14、15、16号外显子进行突变分析.结果 65对ICP患者母女MDR3基因的14、15、16号外显子未发现新的突变.结论 MDR3基因的14、15、6号外显子突变可能不是中国人群ICP发病的主要原因,但有待于寻找MDR3其他位点的突变或扩大检测样本数量的进一步研究.     

Heart rate as an early predictor of severe cardiomyopathy and increased mortality in peripartum cardiomyopathy

BackgroundDelays in diagnosis of peripartum cardiomyopathy (PPCM) are common and are associated with worse outcomes; however, few studies have addressed methods for improving early detection.HypothesisWe hypothesized that easily accessible data (heart rate [HR] and electrocardiograms [ECGs]) could identify women with more severe PPCM and at increased risk of adverse outcomes.MethodsClinical data, including HR and ECG, from patients diagnosed with PPCM between January 1998 and July 2016 at our institution were collected and analyzed. Linear and logistic regression were used to analyze the relationship between HR at diagnosis and the left ventricular ejection fraction (LVEF) at diagnosis. Outcomes included overall mortality, recovery status, and major adverse cardiac events.ResultsAmong 82 patients meeting inclusion criteria, the overall mean LVEF at diagnosis was 26 ± 11.1%. Sinus tachycardia (HR > 100) was present in a total of 50 patients (60.9%) at the time of diagnosis. In linear regression, HR significantly predicted lower LVEF (F = 30.00, p < .0001). With age‐adjusted logistic regression, elevated HR at diagnosis was associated with a fivefold higher risk of overall mortality when initial HR was >110 beats per minute (adjusted odds ratio 5.35, confidence interval 1.23–23.28), p = .025).ConclusionIn this study, sinus tachycardia in women with PPCM was associated with lower LVEF at the time of diagnosis. Tachycardia in the peripartum period should raise concern for cardiomyopathy and may be an early indicator of adverse prognosis.     

Syphilis in pregnancy

The incidence of syphilis is rising in the UK and more cases of syphilis in pregnancy are being reported. Mother to child transmission of syphilis can result in adverse pregnancy outcomes including miscarriage, still birth, neonatal death, low birthweight, preterm birth and congenital anomalies. These adverse outcomes can be prevented by early diagnosis and prompt treatment of syphilis in pregnancy. This article provides an overview of the condition and focuses on the management during pregnancy.     

Teenage pregnancy: strategies for prevention

Teenage pregnancy is a cause and consequence of inequality, limiting the life chances of young parents and their children. It is an issue of global concern, with many countries developing programmes of prevention. This review focuses on the experience of the England strategy, launched in 1999 to address the historically high rates. It is one of the few examples of a successful long term, multi-agency programme, led by national government and locally delivered which, between 1998 and 2018, reduced the under-18 conception rate by 64%. It sets out the case for helping young people delay early pregnancy, the international evidence for prevention, how evidence is translated into a ‘whole system’ approach and the priorities for further reducing inequalities. Questions are included to encourage both investigation into local programmes on teenage pregnancy prevention, and reflection on individual practice. The review concludes with summarizing the next steps for England and the lessons that can be shared more widely.     

复发性流产的内分泌因素

复发性流产是一种常见妊娠并发症,病因复杂多样,其中内分泌因素占8%～12%,文章主要就甲状腺功能异常、高催乳素血症、多囊卵巢综合征及代谢异常、糖尿病、黄体功能不全等内分泌因素进行综述,旨在为复发性流产的预防及治疗方面带来新的思考。     

The role of genetic mutations in intrahepatic cholestasis of pregnancy

ObjectiveIntrahepatic cholestasis of pregnancy (ICP) is a liver disorder of pregnancy characterized by pruritus, elevated liver enzymes and fasting serum bile acids. Genetic predisposition has been suggested to play a role in its etiology and mutations in the ATP8B1(OMIM 1602397) (FIC1), ABCB11(OMIM 1603201) (BSEP), and ABCB4(OMIM 1171060) (MDR3) genes have been implicated.In the present study, we aimed to investigate the possible role of ATP8B1, ABCB11, and ABCB4 gene mutations in the patients with ICP.Materials and methodsA total of 25 patients who were diagnosed with ICP were included in the study. Genetic test results and mutation status of the patients as assessed by the next-generation sequencing technology were retrospectively retrieved from the hospital database.ResultsOf all patients, significant alterations in the ATP8B1 (n = 2), ABCB11 (n = 1), and ABCB4 (n = 7) genes were observed in 10 patients using the molecular analysis testing. All these alterations were heterozygous. Of these alterations, four were reported in the literature previously, while six were not. Using the in-silico parameters, there was a pathogenic alteration in the ABCB4 gene in one patient, while there was no clinically relevant alteration in the other gene mutations in the remaining nine patients.ConclusionConsidering the fact that the alterations were compatible with clinical presentations of the ICP patients and the incidence of these mutations is low in the general population, we believe that our study results are clinically relevant. Further molecular genetic tests in ICP patients and functional studies supporting the results would shed light into the clinical importance of these alterations.     

Best Practices for Counseling Adolescents about the Etonogestrel Implant

Among young persons, ease of use, high efficacy, and high acceptability makes the etonogestrel contraceptive implant an important choice for this age group. Adolescent-friendly, patient-centered counseling considers the patient's cognitive development, the influence of friends and family, as well as their own preferences and values. Age-appropriate language, graphics, and models are useful to explain contraceptive options and relevant side effects. Effectiveness, reversibility, safety, noncontraceptive benefits, and side effects are important attributes and should be discussed when teens are choosing a contraceptive method. In this review we describe suggested best practices for counseling adolescents about the etonogestrel implant so they can make informed, prudent decisions about using this contraceptive method.