ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria

This paper is the first in a series providing updated guidance on the definition, evaluation and management of people with a Cystic Fibrosis Transmembrane conductance Regulator (CFTR)-Related Disorder (CFTR-RD). The need for this update relates to more precise characterisation of CFTR gene variants and improved assessment of CFTR protein dysfunction. The exercise is co-ordinated by the European CF Society Standards of Care Committee and Diagnostic Network Working Group and involves stakeholder engagement. This first paper was produced by a core group using an extensive literature review and papers graded for their quality. Subsequent wider stakeholder agreement was achieved.The definition of a CFTR-RD remains “a clinical condition with evidence of CFTR protein dysfunction that does not fulfil the diagnostic criteria for CF”. Clearer guidance on CFTR dysfunction and relevant CFTR variants will be provided. Thresholds for clinical presentations are presented and the paradigm that pathobiological processes may be evident in more than one organ is agreed. In this paper we reflect on the early patient journey, highlighting that CF specialists as well as other relevant specialists should be involved in the care of people with a CFTR-RD.     

微创性肺表面活性物质治疗新生儿呼吸窘迫综合征的疗效及肺部影像学表现

目的探讨微创性肺表面活性物质(LISA)治疗新生儿呼吸窘迫综合征(NRDS)的疗效及肺部影像学表现。方法择取郑州市第二人民医院于2018年3月至2021年2月收治的70例NRDS患儿,随机分为两组。对照组实行INSURE治疗方案,观察组采用LISA治疗方案,比较两组临床治疗情况、血气分析指标、不良反应事件及肺部影像学表现。结果两组二次PS使用率、给药成功率、NAPAP时间及住院时间比较,差异无统计学意义(P>0.05);而观察组72h内MV率为8.57%,低于对照组(28.57%,P<0.05);于T₂、T₃、T₄及T₅时点,两组PaO₂水平较T1时点均上升,PaCO₂、FiO₂水平则下降(P<0.05);于T₄、T₅时点,观察组FiO2水平低于对照组(P<0.05);两组不良反应及并发症发生率比较,差异均无统计学意义(P>0.05);经影像学特征分析,两组共计7例重度病症(“雪花征”样肺实变,已累及所有分区)、48例中度病症(“雪花征”样肺实变,尚未累及全部肺野)及15例轻度病症(呈“磨玻璃征”样肺实变,累计范围不限),经PS治疗6h、12h及24h后,给予LUS复查,两组NRDS患儿肺脏影像学评分均低于治疗前(P<0.05)。结论LISA及INSURE治疗NRDS均可起到较好疗效,但LISA整体获益更高,血气指标有一定改善,可降低72h内MV使用率,且不增加不良反应事件风险。     

Sandwich graft technique outcomes in medium and large size nasal septal perforations

IntroductionSurgical treatment of medium and large sized nasal septal perforation is challenging. Techniques with and without interposition grafts are used.ObjectiveThe aim of this study is to explain how we apply the sandwich graft technique that we use in medium and large nasal septal perforations as well as to present the results.MethodsWe retrospectively reviewed the patients who were operated with the sandwich graft technique between January 2014 to December 2018 and followed up for at least 6 months. The demographic data, symptom scores, examination, and surgical findings of the patients were taken from the hospital records. Surgical outcomes were presented according to both perforation etiologies (idiopathic or iatrogenic) and sizes (Group A: < 2 cm, Group B: ≥ 2 cm).ResultsWe reviewed 52 cases and 56 surgeries. The average diameter of the perforations was 19.2 mm. The success rate after initial surgeries was 84.6% (44/52). After 4 revision surgeries, the perforation was closed in 88.5% of the cases (46/52). Success rates for Group A and Group B were 90.0% and 86.4%, respectively (p = 0.689). The success rates in idiopathic and iatrogenic cases were 93.3% and 86.5%, respectively (p = 0.659).ConclusionThis study showed that the success rate of sandwich graft technique was higher in medium-sized perforations than large-sized ones and in idiopathic perforations compared to iatrogenic ones, but the latter rate was not statistically significant. This demonstrated that perforation size was not as important in the sandwich graft technique as in flap techniques.     

基于整合医学理念的护理路径应用于脑梗死后鼻饲患者的临床成效

目的 剖析基于整合医学理念的护理路径应用于脑梗死后鼻饲患者的临床成效,以增加医疗实践经验。方法 利用电脑对我院在2015年10月至2017年10月收治的88例脑梗死后鼻饲患者行随机化分组,各自命名为研究组(n=44)和对照组(n=44)。对照组实施传统护理,研究组采取整合式医疗模式护理路径。待干预后第4周末,比较两组患者的吞咽功能、情感状况、生活质量及营养状况。结果 干预后,研究组患者的SAS、SDS评分低于对照组,营养状况优于对照组,生活质量评分高于对照组,洼田试验评分高于对照组,均有统计学差异(P<0.05)。结论 基于整合医学理念的护理路径应用于脑梗死后鼻饲患者,对其吞咽功能的改善以及情感状况的稳定大有助益,且能增进机体对营养物质的吸收及提升生活质量。     

Relationship between nasal septum morphology and nasal obstruction symptom severity: computed tomography study

IntroductionThe impact of the nasal septum morphology on the severity of obstruction symptoms has not been fully explored.ObjectiveThis study aimed to investigate whether the morphology of the deviated nasal septum assessed by computed tomography may explain nasal obstruction severity.MethodsThe study included 386 patients who were referred to the computed tomography examination of the paranasal sinuses. Patient selection criteria were the absence of facial anomalies, facial trauma, nasal surgery, and sinonasal tumors. Computed tomography images were used to estimate deviated nasal septum prevalence, the prevalence of Mladina's seven types of deviated nasal septum, and to measure the deviated nasal septum angle. Nasal obstruction severity was assessed by the nasal obstruction symptom evaluation, NOSE scale. The relationship between NOSE score, deviated nasal septum morphology, and deviated nasal septum angle was performed by a statistical regression model on the reduced sample of 225 patients.ResultsThe prevalence of deviated nasal septum was 92.7%. Type 7 deviated nasal septum was the most frequent (34.2%) followed by type 5 (26.2%) and type 3 (23.6%). The worst NOSE scores were recorded in the type 2 deviated nasal septum (45.00 ± 28.28). The mean deviated nasal septum angle in patients with nasal obstruction was 8.5° ± 3.24. NOSE scores were not significantly associated with deviated nasal septum types and angles.ConclusionPatients with different types of deviated nasal septum have different NOSE scores. Computed tomography morphology of the deviated nasal septum could not fully explain the severity of nasal obstruction.     

Valvuloplasty of fetal pulmonary atresia with intact ventricular septum and hypoplastic right heart: Mid-term follow-up results

ObjectiveThis study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty (FPV) in fetuses with pulmonary atresia with intact ventricular septum (PA/IVS).MethodsFrom August 31, 2018, to May 31, 2019, seven fetuses with PA/IVS and hypoplastic right heart were included in this study. All underwent echocardiography by the same specialist and were operated on by the same team. Intervention and echocardiography data were collected, and changes in the associated indices noted during follow-up were analyzed.ResultsAll seven fetuses successfully underwent FPV. The median gestational age at FPV was 27.54 weeks. The average FPV procedural time was 6 ?min. Persistent bradycardia requiring treatment occurred in 4/7 procedures. Finally, five pregnancies were successfully delivered, and the other two were aborted. Compared to data before fetal cardiac interventions (FCI), tricuspid valve annulus diameter/mitral valve annulus diameter (TV/MV) and right ventricle diameter/left ventricle diameter (RV/LV) of all fetuses had progressively improved. The maximum tricuspid regurgitation velocity decreased from 4.60 ?m/s to 3.64 ?m/s. The average follow-up time was 30.40 ?± ?2.05 months. During the follow-up period, the diameter of the tricuspid valve ring in five children continued to improve, and the development rate of the tricuspid valve was relatively obvious from 6 months to 1 year after birth. However, the development of the right ventricle after birth was relatively slow. It was discovered that there were individual variations in the development of the right ventricle during follow-up.ConclusionThe findings support the potential for the development of the right ventricle and tricuspid valve in fetuses with PA/IVS who underwent FCI. Development of the right ventricle and tricuspid valve does not occur synchronously during pregnancy. The right ventricle develops rapidly in utero, but the development of tricuspid valve is more apparent after birth than in utero.     

鼻塞式同步间歇正压通气(NIPPV)联合布地奈德雾化治疗新生儿急性呼吸窘迫综合征疾病的临床应用研究

目的:分析鼻塞式同步间歇正压通气(NIPPV)联合布地奈德雾化治疗ARDS(新生儿急性呼吸窘迫综合征)疾病的临床应用效果。方法:纳入病例是2017年5月—2019年11月收治的104例ARDS新生儿,随机平均分为两组。参照组52例采纳CPAP(持续气道正压通气通气)治疗,实验组52例采纳NIPPV+布地奈德雾化治疗,对比两组呼吸机通气时间、用氧时间、住院时间、血气指标以及并发症发生情况。结果:实验组呼吸机通气时间、用氧时间、住院时间均明显短于参照组,差异有统计学意义P<0.05;实验组治疗3 d后PaCO2明显低于参照组,实验组治疗3 d后PH以及PaO2明显高于参照组,差异有统计学意义P<0.05;实验组并发症发生率(3.85%,2/52)明显低于参照组(21.15%,11/52),差异有统计学意义P<0.05。结论:NIPPV+布地奈德雾化可有效缩短ARDS患者机械通气时间,改善血气指标,降低并发症发生率,值得借鉴。