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[Amplitude-integrated electroencephalography monitoring results of hospitalized neonates in plateau areas]. [高原地区住院新生儿的振幅积分脑电图监测结果]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2402078
Xiao-Fen Zhao, Guo-Qiang Cheng, Peng-Na Zhao, Mei Zhao, Shuang-Yan Zhu, Yang-Fang Li, Wen-Hao Zhou

Objectives: To investigate the amplitude-integrated electroencephalography (aEEG) monitoring results of hospitalized neonates in plateau areas.

Methods: A retrospective analysis was conducted on 5 945 neonates who were admitted to the Department of Neonatology, Kunming Children's Hospital, and received aEEG monitoring from January 2020 to December 2022. According to the aEEG monitoring results, they were divided into a normal aEEG group and an abnormal aEEG group. The incidence rate of aEEG abnormalities was analyzed in neonates with various systemic diseases, as well as the manifestations of aEEG abnormalities and the consistency between aEEG abnormalities and clinical abnormalities.

Results: Among the 5 945 neonates, the aEEG abnormality rate was 19.28% (1 146/5 945), with an abnormality rate of 29.58% (906/3 063) in critically ill neonates and 8.33% (240/2 882) in non-critically ill neonates (P<0.05). The children with inherited metabolic diseases showed the highest aEEG abnormality rate of 60.77% (79/130), followed by those with central nervous system disorders [42.22% (76/180)] and preterm infants [35.53% (108/304)]. Compared with the normal aEEG group, the abnormal aEEG group had significantly lower age and gestational age, as well as a significantly lower birth weight of preterm infants (P<0.05). Among the 1 146 neonates with aEEG abnormalities, the main types of aEEG abnormalities were sleep cycle disorders in 597 neonates (52.09%), background activity abnormalities in 294 neonates (25.65%), and epileptiform activity in 255 neonates (22.25%), and there were 902 neonates (78.71%) with abnormal clinical manifestations. The sensitivity and specificity of aEEG monitoring for brain function abnormalities were 33.51% and 92.50%, respectively.

Conclusions: In plateau areas, there is a relatively high rate of aEEG abnormalities among hospitalized neonates, particularly in critically ill neonates and those with smaller gestational ages and younger ages, suggesting a high risk of brain injury. Therefore, routine aEEG monitoring for the hospitalized neonates can help with the early detection of brain function abnormalities, the decision-making in treatment, and the formulation of brain protection strategies.

目的:研究高原地区住院新生儿的振幅积分脑电图(aEEG)监测结果:研究高原地区住院新生儿脑电图(aEEG)监测结果:方法:对2020年1月至2022年12月在昆明市儿童医院新生儿科住院并接受脑电图监测的5 945名新生儿进行回顾性分析。根据电子脑电图监测结果,他们被分为电子脑电图正常组和电子脑电图异常组。分析了患有各种系统疾病的新生儿脑电图异常的发生率,以及脑电图异常的表现和脑电图异常与临床异常的一致性:在5 945名新生儿中,aEEG异常率为19.28%(1 146/5 945),其中危重新生儿异常率为29.58%(906/3 063),非危重新生儿异常率为8.33%(240/2 882)(PPConclusions:在高原地区,住院新生儿的 aEEG 异常率相对较高,尤其是重症新生儿和胎龄较小、年龄较小的新生儿,这表明脑损伤的风险很高。因此,对住院新生儿进行常规的脑电图监测有助于早期发现脑功能异常、制定治疗决策和脑保护策略。
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引用次数: 0
[Clinical characteristics of children with anti-neutrophil cytoplasmic antibody-associated vasculitis]. [抗中性粒细胞胞浆抗体相关性血管炎患儿的临床特征]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2401074
Jing-Qi Liu, Yong-Zhen Li, Lan-Jun Shuai, Yan Cao, Xiao-Yan Li, Ying Wang, Tian Shen, Shuang-Hong Mo, Xiao-Jie He, Xiao-Chuan Wu

Objectives: To study the clinical characteristics of children with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV).

Methods: A retrospective analysis was conducted on the clinical data of 25 children diagnosed with AAV at the Second Xiangya Hospital of Central South University from January 2010 to June 2022.

Results: Among the AAV children, there were 5 males and 20 females, with a median age of onset of 11.0 years. Involvement of the urinary system was seen in 18 cases (72%); respiratory system involvement in 10 cases (40%); skin involvement in 6 cases (24%); eye, ear, and nose involvement in 5 cases (20%); joint involvement in 4 cases (16%); digestive system involvement in 2 cases (8%). Eleven cases underwent kidney biopsy, with 5 cases (46%) showing focal type, 2 cases (18%) showing crescentic type, 2 cases (18%) showing mixed type, and 2 cases (18%) showing sclerotic type. Immune complex deposits were present in 5 cases (45%). Seven cases reached chronic kidney disease (CKD) stage V, with 2 cases resulting in death. Two cases underwent kidney transplantation. At the end of the follow-up period, 2 cases were at CKD stage II, and 1 case was at CKD stage III. Of the 16 cases of microscopic polyangiitis (MPA) group, 13 (81%) involved the urinary system. Of the 9 cases of granulomatosis with polyangiitis (GPA), 6 cases (66%) had sinusitis. Serum creatinine and uric acid levels were higher in the MPA group than in the GPA group (P<0.05), while red blood cell count and glomerular filtration rate were lower in the MPA group (P<0.05).

Conclusions: AAV is more common in school-age female children, with MPA being the most common clinical subtype. The onset of AAV in children is mainly characterized by renal involvement, followed by respiratory system involvement. The renal pathology often presents as focal type with possible immune complex deposits. Children with MPA often have renal involvement, while those with GPA commonly have sinusitis. The prognosis of children with AAV is poor, often accompanied by renal insufficiency.

目的研究抗中性粒细胞胞浆抗体(ANCA)相关性血管炎(AAV)患儿的临床特征:方法:对2010年1月至2022年6月中南大学湘雅二医院确诊的25例AAV患儿的临床资料进行回顾性分析:AAV患儿中,男5例,女20例,发病年龄中位数为11.0岁。泌尿系统受累18例(72%);呼吸系统受累10例(40%);皮肤受累6例(24%);眼、耳、鼻受累5例(20%);关节受累4例(16%);消化系统受累2例(8%)。11例患者接受了肾活检,其中5例(46%)为局灶型,2例(18%)为新月型,2例(18%)为混合型,2例(18%)为硬化型。5例(45%)出现免疫复合物沉积。7 例患者的慢性肾脏病(CKD)达到了 V 期,其中 2 例导致死亡。两例患者接受了肾移植手术。在随访期结束时,2 例处于慢性肾脏病 II 期,1 例处于慢性肾脏病 III 期。在 16 例显微镜下多血管炎(MPA)患者中,13 例(81%)涉及泌尿系统。在 9 例肉芽肿伴多血管炎(GPA)病例中,有 6 例(66%)患有鼻窦炎。MPA 组的血清肌酐和尿酸水平高于 GPA 组(PPConclusions:AAV在学龄女童中更为常见,MPA是最常见的临床亚型。儿童 AAV 发病的主要特征是肾脏受累,其次是呼吸系统受累。肾脏病变通常表现为局灶型,可能有免疫复合物沉积。患有 MPA 的儿童常伴有肾脏受累,而患有 GPA 的儿童常伴有鼻窦炎。AAV患儿的预后较差,通常伴有肾功能不全。
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引用次数: 0
[Interpretation of the 2023 "Guidelines for parenteral nutrition in preterm infants: the American Society for Parenteral and Enteral Nutrition"]. [2023 年《早产儿肠外营养指南:美国肠外和肠内营养学会》解读]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2312083
Xin-Yu Zhang, Yang He, Jun Tang, Jia-Jie Yu, Jun-Jie Ying, De-Zhi Mu

The "Guidelines for parenteral nutrition in preterm infants: the American Society for parenteral and enteral nutrition" were developed by the American Society for Parenteral and Enteral Nutrition and published in the Journal of Parenteral and Enteral Nutrition in September 2023. The guidelines provide recommendations on 12 key clinical questions regarding parenteral nutrition (PN) for preterm infants. In comparison to similar guidelines, this set offers more detailed perspectives on PN for preterm infants. It presents evidence-based recommendations for the commencement time, nutrient dosage, and composition of PN, considering primary outcomes such as growth and development, as well as secondary outcomes like sepsis, retinopathy of prematurity, parenteral nutrition-related liver disease, and jaundice. This article aims to interpret the guidelines to provide a reference for colleagues in the field.

早产儿肠外营养指南:美国肠外和肠内营养学会》由美国肠外和肠内营养学会制定,于 2023 年 9 月发表在《肠外和肠内营养杂志》上。该指南就早产儿肠外营养 (PN) 的 12 个关键临床问题提出了建议。与同类指南相比,这套指南对早产儿肠外营养提供了更详细的观点。它针对肠外营养的开始时间、营养剂量和组成提出了循证建议,同时考虑了生长发育等主要结果以及败血症、早产儿视网膜病变、肠外营养相关肝病和黄疸等次要结果。本文旨在解读该指南,为业内同行提供参考。
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引用次数: 0
[Expert recommendations for the prevention of common respiratory viral infections in neonates]. [预防新生儿常见呼吸道病毒感染的专家建议]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2405078

Neonates, particularly preterm infants, are a susceptible population to respiratory viral infections. Currently, aside from influenza, there are no antiviral medications specifically approved for the treatment of respiratory viral infections in neonates; therefore, prevention of these viral infections is particularly crucial for neonates. The Neonatal HealthCare Committee of Chinese Maternal and Child Health Association, based on domestic and international clinical evidence and combined with clinical practice experience, and after thorough discussion by relevant experts, has developed eight expert recommendations. These include preventive strategies against influenza virus, respiratory syncytial virus, and severe acute respiratory syndrome coronavirus 2 infections, intended for reference in clinical practice.

新生儿,尤其是早产儿,是呼吸道病毒感染的易感人群。目前,除流感外,尚无专门批准用于治疗新生儿呼吸道病毒感染的抗病毒药物,因此,预防新生儿呼吸道病毒感染尤为重要。中国妇幼保健协会新生儿保健专业委员会根据国内外临床证据,结合临床实践经验,经相关专家充分讨论,制定了八项专家建议。其中包括流感病毒、呼吸道合胞病毒、严重急性呼吸综合征冠状病毒2型感染的预防策略,供临床实践参考。
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引用次数: 0
[Clinical characteristics of Ureaplasma urealyticum infection and colonization in extremely preterm infants]. [极早产儿尿解支原体感染和定植的临床特征]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2403002
Yan-Qiong Wang, Ya-Li Zeng, Xue-Yu Chen, Zhi-Feng Huang, Chuan-Zhong Yang

Objectives: To investigate the clinical characteristics of Ureaplasma urealyticum (UU) infection and colonization in extremely preterm infants and its impact on the incidence of bronchopulmonary dysplasia (BPD).

Methods: A retrospective analysis was conducted on 258 extremely preterm infants who were admitted to the Department of Neonatology, Shenzhen Maternity and Child Healthcare Hospital, from September 2018 to September 2022. According to the results of UU nucleic acid testing and the evaluation criteria for UU infection and colonization, the subjects were divided into three groups: UU-negative group (155 infants), UU infection group (70 infants), and UU colonization group (33 infants). The three groups were compared in terms of general information and primary and secondary clinical outcomes.

Results: Compared with the UU-negative group, the UU infection group had significant increases in the incidence rate of BPD, total oxygen supply time, and the length of hospital stay (P<0.05), while there were no significant differences in the incidence rates of BPD and moderate/severe BPD between the UU colonization group and the UU-negative group (P>0.05).

Conclusions: The impact of UU on the incidence of BPD in extremely preterm infants is associated with the pathogenic state of UU (i.e., infection or colonization), and there are significant increases in the incidence rate of BPD, total oxygen supply time, and the length of hospital stay in extremely preterm infants with UU infection. UU colonization is not associated with the incidence of BPD and moderate/severe BPD in extremely preterm infants.

目的研究极早产儿尿解支原体(UU)感染和定植的临床特征及其对支气管肺发育不良(BPD)发生率的影响:对深圳市妇幼保健院新生儿科2018年9月至2022年9月收治的258例极早产儿进行回顾性分析。根据UU核酸检测结果和UU感染、定植的评估标准,将受试者分为三组:UU阴性组(155名婴儿)、UU感染组(70名婴儿)和UU定植组(33名婴儿)。三组在一般信息、主要和次要临床结果方面进行了比较:结果:与 UU 阴性组相比,UU 感染组的 BPD 发生率、总供氧时间和住院时间均显著增加(PP>0.05):UU对早产儿BPD发病率的影响与UU的致病状态(即感染或定植)有关,感染UU的早产儿BPD发病率、总供氧时间和住院时间均显著增加。UU 定植与极早产儿 BPD 和中度/重度 BPD 的发生率无关。
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引用次数: 0
[Research progress of right ventricular strain imaging evaluation technology in pulmonary arterial hypertension]. [肺动脉高压右心室应变成像评估技术的研究进展]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2403071
Man-Zhen Liao, Yun-Bin Xiao

Pulmonary arterial hypertension (PAH) has a subtle onset, rapid progression, and high mortality rate. Imaging evaluation is an important diagnostic and follow-up method for PAH patients. Right ventricular (RV) strain evaluation can identify early changes in RV function and predict the prognosis. Currently, various methods such as tissue Doppler imaging, velocity vector imaging, speckle tracking imaging, and cardiac magnetic resonance imaging can be used to evaluate RV strain in PAH patients. This article aims to summarize the research progress of RV strain imaging evaluation technology in PAH patients, in order to provide a basis for clinical diagnosis and follow-up of PAH patients.

肺动脉高压(PAH)起病隐匿、进展迅速、死亡率高。影像学评估是诊断和随访 PAH 患者的重要方法。右心室(RV)应变评估可发现右心室功能的早期变化并预测预后。目前,组织多普勒成像、速度矢量成像、斑点追踪成像和心脏磁共振成像等多种方法可用于评估 PAH 患者的右心室应变。本文旨在总结 PAH 患者 RV 应变成像评估技术的研究进展,为 PAH 患者的临床诊断和随访提供依据。
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引用次数: 0
[Efficacy of therapeutic hypothermia on mild neonatal hypoxic-ischemic encephalopathy: a prospective randomized controlled study]. [治疗性低温对轻度新生儿缺氧缺血性脑病的疗效:一项前瞻性随机对照研究]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2401031
Jie Huang, Ya-Ling Ding, Liang Gao, Yao Zhu, Ya-Yin Lin, Xin-Zhu Lin

Objectives: To investigate the efficacy of therapeutic hypothermia on mild neonatal hypoxic-ischemic encephalopathy (HIE).

Methods: A prospective study was performed on 153 neonates with mild HIE who were born from September 2019 to September 2023. These neonates were randomly divided into two groups: therapeutic hypothermia (n=77) and non-therapeutic hypothermia group (n=76). The short-term clinical efficacy of the two groups were compared. Barkovich scoring system was used to analyze the severity of brain injury shown on magnetic resonance imaging (MRI) between the two groups.

Results: There were no significant differences in gestational age, gender, birth weight, mode of birth, and Apgar score between the therapeutic hypothermia and non-therapeutic hypothermia groups (P>0.05). There were no significant differences in the incidence rates of sepsis, arrhythmia, persistent pulmonary hypertension and pulmonary hemorrhage and the duration of mechanical ventilation within the first 72 hours after birth between the two groups. The therapeutic hypothermia group had longer prothrombin time within the first 72 hours after birth and a longer hospital stay (P<0.05). Compared with the non-therapeutic hypothermia group, the therapeutic hypothermia group had lower incidence rates of MRI abnormalities (30% vs 57%), moderate to severe brain injury on MRI (5% vs 28%), and watershed injury (27% vs 51%) (P<0.05), as well as lower medium watershed injury score (0 vs 1) (P<0.05).

Conclusions: Therapeutic hypothermia can reduce the incidence rates of MRI abnormalities and watershed injury, without obvious adverse effects, in neonates with mild HIE, suggesting that therapeutic hypothermia may be beneficial in neuroprotection in these neonates.

目的:研究治疗性低温对轻度新生儿缺氧缺血性脑病(HIE)的疗效:研究治疗性低温对轻度新生儿缺氧缺血性脑病(HIE)的疗效:对2019年9月至2023年9月出生的153名患有轻度HIE的新生儿进行前瞻性研究。这些新生儿被随机分为两组:治疗性低温组(n=77)和非治疗性低温组(n=76)。比较两组的短期临床疗效。采用 Barkovich 评分系统分析两组患者磁共振成像(MRI)显示的脑损伤严重程度:结果:治疗性低温组和非治疗性低温组在胎龄、性别、出生体重、出生方式和阿普加评分方面均无明显差异(P>0.05)。两组婴儿在出生后 72 小时内的败血症、心律失常、持续性肺动脉高压和肺出血发生率以及机械通气持续时间无明显差异。治疗性低温组在出生后 72 小时内凝血酶原时间更长,住院时间更长(P0.05)。与非治疗性低温组相比,治疗性低温组的核磁共振成像异常发生率(30% vs 57%)、核磁共振成像中度至重度脑损伤发生率(5% vs 28%)和分水岭损伤发生率(27% vs 51%)较低(P0.05),中度分水岭损伤评分也较低(0 vs 1)(P0.05):结论:治疗性低温可降低轻度HIE新生儿MRI异常和分水岭损伤的发生率,且无明显不良反应。
{"title":"[Efficacy of therapeutic hypothermia on mild neonatal hypoxic-ischemic encephalopathy: a prospective randomized controlled study].","authors":"Jie Huang, Ya-Ling Ding, Liang Gao, Yao Zhu, Ya-Yin Lin, Xin-Zhu Lin","doi":"10.7499/j.issn.1008-8830.2401031","DOIUrl":"10.7499/j.issn.1008-8830.2401031","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the efficacy of therapeutic hypothermia on mild neonatal hypoxic-ischemic encephalopathy (HIE).</p><p><strong>Methods: </strong>A prospective study was performed on 153 neonates with mild HIE who were born from September 2019 to September 2023. These neonates were randomly divided into two groups: therapeutic hypothermia (<i>n</i>=77) and non-therapeutic hypothermia group (<i>n</i>=76). The short-term clinical efficacy of the two groups were compared. Barkovich scoring system was used to analyze the severity of brain injury shown on magnetic resonance imaging (MRI) between the two groups.</p><p><strong>Results: </strong>There were no significant differences in gestational age, gender, birth weight, mode of birth, and Apgar score between the therapeutic hypothermia and non-therapeutic hypothermia groups (<i>P</i>>0.05). There were no significant differences in the incidence rates of sepsis, arrhythmia, persistent pulmonary hypertension and pulmonary hemorrhage and the duration of mechanical ventilation within the first 72 hours after birth between the two groups. The therapeutic hypothermia group had longer prothrombin time within the first 72 hours after birth and a longer hospital stay (<i>P<</i>0.05). Compared with the non-therapeutic hypothermia group, the therapeutic hypothermia group had lower incidence rates of MRI abnormalities (30% vs 57%), moderate to severe brain injury on MRI (5% vs 28%), and watershed injury (27% vs 51%) (<i>P<</i>0.05), as well as lower medium watershed injury score (0 vs 1) (<i>P<</i>0.05).</p><p><strong>Conclusions: </strong>Therapeutic hypothermia can reduce the incidence rates of MRI abnormalities and watershed injury, without obvious adverse effects, in neonates with mild HIE, suggesting that therapeutic hypothermia may be beneficial in neuroprotection in these neonates.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"26 8","pages":"803-810"},"PeriodicalIF":0.0,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The association between preterm birth and hypertension]. [早产与高血压的关系]。
Q3 Medicine Pub Date : 2024-08-15 DOI: 10.7499/j.issn.1008-8830.2312129
Yue DU, Ya-Juan Wang

In recent years, the number of premature births worldwide has been increasing, and their long-term prognoses, particularly the cardiovascular outcomes of preterm individuals in adulthood, have become a growing concern. Adults who were born prematurely are at a higher risk for cardiovascular diseases, which may be related to changes in cardiovascular structure, renal structure alterations, changes in body composition, and overactivation of the hypothalamic-pituitary-adrenal axis. To improve the outcomes for preterm individuals, long-term follow-up monitoring and effective prevention and treatment measures are necessary. This article aims to review the relevant literature, summarize the risks and mechanisms of hypertension during childhood and adulthood in those born prematurely, and enhance awareness and understanding of the risk of hypertension in adults who were born prematurely.

近年来,全球早产儿数量不断增加,他们的长期预后,尤其是早产儿成年后的心血管预后,日益受到关注。早产成人罹患心血管疾病的风险较高,这可能与心血管结构变化、肾脏结构改变、身体成分变化以及下丘脑-垂体-肾上腺轴过度激活有关。为了改善早产儿的预后,有必要对其进行长期跟踪监测并采取有效的预防和治疗措施。本文旨在回顾相关文献,总结早产儿儿童期和成年期高血压的风险和机制,提高人们对早产儿成人高血压风险的认识和理解。
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引用次数: 0
[Risk factors for initial non-invasive ventilation failure in very low birth weight infants with gestational age <32 weeks: a multicenter retrospective study]. [胎龄小于 32 周的极低出生体重儿初始无创通气失败的风险因素:一项多中心回顾性研究]。
Q3 Medicine Pub Date : 2024-07-15 DOI: 10.7499/j.issn.1008-8830.2404166
Wen-Wen Wu, Hui Rong, Rui Cheng, Yang Yang, Fei Shen

Objectives: To investigate the risk factors and adverse prognosis associated with initial non-invasive ventilation (NIV) failure in very low birth weight infants (VLBWI) with gestational age <32 weeks.

Methods: A retrospective collection of clinical data from preterm infants admitted to the neonatal intensive care unit (NICU) in 28 tertiary hospitals in Jiangsu Province from January 2019 to December 2021 was conducted. Based on the outcomes of initial NIV, the infants were divided into a successful group and a failure group to analyze the risk factors for NIV failure and adverse prognosis.

Results: A total of 817 infants were included, with 453 males (55.4%) and 139 failures (17.0%). The failure group had lower gestational age, birth weight, and 1-minute and 5-minute Apgar scores compared to the successful group (P<0.05). The failure group also had a higher proportion of respiratory distress syndrome (RDS) diagnosed upon NICU admission, higher maximum positive end-expiratory pressure during NIV, and higher percentages of reaching the required maximum fraction of inspired oxygen (FiO2) ≥30%, ≥35%, and ≥40% throughout the initial NIV process compared to the successful group (P<0.05). Gestational age (OR=0.671, 95%CI: 0.581-0.772), RDS (OR=1.955, 95%CI: 1.181-3.366), and FiO2 ≥30% (OR=2.053, 95%CI: 1.106-4.044) were identified as risk factors for initial NIV failure in these infants with gestational age <32 weeks (P<0.05). The failure group had higher incidences of complications such as pulmonary infections, pneumothorax, retinopathy of prematurity, moderate to severe bronchopulmonary dysplasia, and severe intraventricular hemorrhage during hospitalization, as well as longer hospital stays and higher total costs compared to the successful group (P<0.05).

Conclusions: Smaller gestational age, a diagnosis of RDS in the NICU, and achieving a maximum FiO2 ≥30% during the initial NIV process are risk factors for initial NIV failure in infants with gestational age <32 weeks. Initial NIV failure significantly increases the risk of adverse outcomes in this population.

目的探讨与胎龄相关的极低出生体重儿(VLBWI)初始无创通气(NIV)失败的风险因素和不良预后 方法:回顾性收集2019年1月至2021年12月江苏省28家三级医院新生儿重症监护室(NICU)收治的早产儿临床资料。根据初始NIV的结果,将婴儿分为成功组和失败组,分析NIV失败和不良预后的风险因素:结果:共纳入 817 名婴儿,其中男性 453 名(55.4%),失败 139 名(17.0%)。与成功组相比,失败组在整个初始 NIV 过程中的胎龄、出生体重、1 分钟和 5 分钟 Apgar 评分(P2)≥30%、≥35% 和≥40%(POR=0.671,95%CI:0.581-0.772)、RDS(OR=1.955,95%CI:1.181-3.366)和 FiO2 ≥30%(OR=2.053,95%CI:1.106-4.044)被认为是这些胎龄为 PPConclusions 的婴儿初始 NIV 失败的风险因素:胎龄较小、在新生儿重症监护室诊断出 RDS 以及在初始 NIV 过程中达到最大 FiO2 ≥30% 是导致胎龄较大婴儿初始 NIV 失败的风险因素
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引用次数: 0
[NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review]. [NFIX基因突变导致一对同卵双胞胎患马歇尔-史密斯综合征及文献综述]。
Q3 Medicine Pub Date : 2024-07-15 DOI: 10.7499/j.issn.1008-8830.2401047
Xue-Qin Lin, Yu-Lin Quan, Hai-Lan He, Jing Peng

This article reports on the clinical and genetic characteristics of monozygotic twins with Marshall-Smith syndrome (MRSHSS) due to a mutation in the NFIX gene, along with a review of related literature. Both patients presented with global developmental delays, a prominent forehead, shallow eye sockets, and pectus excavatum. Genetic testing revealed a heterozygous splicing site mutation c.697+1G>A in both children, with parents showing wild-type at this locus. According to the guidelines of the American College of Medical Genetics and Genomics, this mutation is considered likely pathogenic and has not been previously reported in the literature. A review of the literature identified 32 MRSHSS patients with splicing/frameshift mutations. Accelerated bone maturation and moderate to severe global developmental delay/intellectual disability are the primary clinical manifestations of patients with MRSHSS. Genetic testing results are crucial for the diagnosis of this condition.

本文报告了一对因 NFIX 基因突变而患有马歇尔-史密斯综合征(MRSHSS)的单卵双生儿的临床和遗传特征,并对相关文献进行了综述。两名患者均表现为全面发育迟缓、前额突出、眼窝浅陷和鸡胸。基因检测显示,两名患儿的基因剪接位点均发生了c.697+1G>A的杂合突变,而其父母在该位点上均显示为野生型。根据美国医学遗传学和基因组学学院(American College of Medical Genetics and Genomics)的指导方针,这种突变被认为可能是致病性的,而且以前没有在文献中报道过。查阅文献后发现,32 名 MRSHSS 患者存在剪接/框架转换突变。骨成熟加速和中度至重度全身发育迟缓/智力障碍是 MRSHSS 患者的主要临床表现。基因检测结果对于诊断这种疾病至关重要。
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引用次数: 0
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中国当代儿科杂志
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