A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1

ObjectiveWith this case report, we would like to highlight the importance of a multidisciplinary approach and atypical findings of congenital high airway obstruction sequence (CHAOS), anhydramnios, and renal dysgenesis in the prenatal diagnosis of Fraser syndrome (FS).Case reportA 25-year-old primigravida at 19 weeks of routine anomaly scan revealed abnormal sonographic findings such as fetal bilateral dysplastic small kidneys and gross oligohydramnios. The further detailed evaluation revealed that both fetal lungs were hyperechogenic with prominent (dilated) trachea and bronchi suggestive of CHAOS. Based on these findings, a diagnosis of FS was suspected. The couple was counseled and the pregnancy was terminated. The postmortem evaluation and novel homozygous variant in the FRAS1 gene confirmed the diagnosis of FS.ConclusionThe diagnosis and counseling of the patient were supported by a well-coordinated, multidisciplinary approach involving an obstetrician, a fetal medicine specialist, a medical geneticist, and a fetal pathologist.     

妊娠合并地中海贫血的产科管理

妊娠合并地中海贫血（thalassemia）是一种发生在妊娠期的单基因组遗传的溶血性疾病。由于血液中血红蛋白的组成比例失衡,妊娠合并地中海贫血患者血液系统发生了改变,可能会影响母体的心脏功能,增加血栓形成风险,损害免疫系统,使内分泌系统紊乱等。以往研究关注妊娠合并地中海贫血的流行病学及发病机制,缺乏对其所带来的并发症的妊娠期管理、遗传咨询及产前诊断的系统性阐述。从病变类型和发病机制入手,深度剖析地中海贫血在妊娠期的特有并发症及相应的处理方式,以期能取得更好的妊娠结局及围生儿结局。     

Prenatal exposure to perfluoroalkyl substances,immune-related outcomes,and lung function in children from a Spanish birth cohort study

BackgroundPrenatal exposure to perfluoroalkyl substances (PFASs) has been associated with impaired immune and respiratory health during childhood but the evidence is inconsistent and limited for lung function. We studied the association between prenatal PFASs exposure and immune and respiratory health, including lung function, up to age 7 years in the Spanish INMA birth cohort study.MethodsWe assessed four PFASs in maternal plasma samples collected during the 1st trimester of pregnancy (years: 2003–2008): perfluorohexane sulfonate (PFHxS), perfluorooctane sulfonate (PFOS), perfluorooctanoate (PFOA), and perfluorononanoate (PFNA). Mothers reported the occurrence (yes/no) of lower respiratory tract infections, wheezing, asthma, and eczema in the previous 12 months at 1.5 and 4 years of the child (n = 1188) and at 7 years (n = 1071). At ages 4 (n = 503) and 7 (n = 992) years lung function was assessed using spirometry tests.ResultsThe most abundant PFASs were PFOS and PFOA (geometric means: 5.80 and 2.31 ng/mL, respectively). The relative risk of asthma during childhood per each doubling in PFNA concentration was 0.74 (95 CI%: 0.57, 0.96). The relative risk of eczema during childhood per every doubling in PFOS concentration was 0.86 (95 CI%: 0.75, 0.98). Higher PFOA concentrations were associated with lower forced vital capacity and lower forced expiratory volume in 1 s z-scores at 4 years [β (95 CI %): −0.17 (−0.34, −0.01) and −0.13 (−0.29, 0.03), respectively], but not at 7 years.ConclusionThis longitudinal study suggests that different PFASs may affect the developing immune and respiratory systems differently. Prenatal exposure to PFNA and PFOS may be associated with reduced risk of respiratory and immune outcomes, particularly asthma and eczema whereas exposure to PFOA may be associated with reduced lung function in young children. These mixed results need to be replicated in follow-up studies at later ages.     

肌骨超声在腰痛诊断中的应用

腰痛已成为世界范围内主要的公共健康问题,常规的腰痛影像学检查会反复地对患者造成辐射伤害,并且存在一定的漏诊、误诊的可能性,延误治疗时机。肌骨超声是一种非侵入性的成像方法,具有安全、无创的特点,并且价格低廉,已经作为常用的腰痛辅助筛查手段。通过对腰痛的常规影像学检查手段进行分析比较,全面阐述肌骨超声在腰痛的诊断及康复过程中的价值,为更好地促进腰痛的诊断和康复提供理论基础。     

持续性颅内压监测在颅脑外伤治疗的效果探讨

目的对急性重型颅脑外伤患者在临床治疗中实施持续性颅内压监测的价值进行研究。方法选择本院在2017年8月—2018年8月期间收治的确诊为重型颅脑外伤的患者共计28例作为研究对象,按照硬币法将这些患者划分为两个小组,对照组14例,实验组14例。采用常规治疗方式对对照组加以治疗,采用持续性颅内压监测对实验组加以治疗,对两组患者的治疗效果进行比较。结果对照组的预后神经功能NHISS评分为(15.83±0.31)分、预后GOS评分为(3.19±0.15)分,实验组的预后神经功能NHISS评分为(11.18±0.45)分、预后GOS评分为(4.90±0.17)分。实验组预后神经功能NHISS评分、GOS评分均明显优于对照组,且差异具有统计学意义(P<0.05)。结论在急性重型颅脑外伤患者的临床治疗中应用持续性颅内压监测具有重要作用,其能够对患者的治疗予以有效指导,提升患者的治疗效果。     

PBL教学法在临床实习护士查房中的应用

目的探讨PBL教学法在临床实习护士查房中的应用。方法选取2018年1月-2018年11月于本院实习的42例护士作为研究对象,按照查房方法的差异分为对照组(21例)与观察组(21例),对照组采用传统查房法,观察组采用PBL教学法。比较两组护理业务成绩、临床各项评价指标得分情况以及对护理查房业务的掌握程度。结果观察组临床护理业务兴趣、自主学习能力、学习效率、回答问题踊跃程度等各项指标得分高于对照组,差异有统计学意义(P<0.05)。观察组理论考试、实操训练、病历书写等临床各项评价指标得分高于对照组,差异有统计学意义(P<0.05)。观察组对护理查房业务的掌握程度为95.2%,高于对照组的61.9%,差异有统计学意义(P<0.05)。结论在临床护理业务查房中应用教学法,建议采纳PBL教学法,在提高实习护士理论知识、提升业务水平和综合能力方面价值显著。