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Complete Molar Pregnancies with a Coexisting Fetus: Pregnancy Outcomes and Review of Literature. 完全磨牙妊娠与胎儿共存:妊娠结局和文献综述。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-10-25 eCollection Date: 2022-01-01 DOI: 10.1055/a-1678-3563
Roxanna A Irani, Kerry Holliman, Michelle Debbink, Lori Day, Krista Mehlhaff, Lisa Gill, Cara Heuser, Alisa Kachikis, Kristine Strickland, Justin Tureson, Jessica Shank, Rachel Pilliod, Chitra Iyer, Christina S Han

Objective  The objective of the study was to review the obstetric outcomes of complete hydatidiform molar pregnancies with a coexisting fetus (CHMCF), a rare clinical entity that is not well described. Materials and Methods  We performed a retrospective case series with pathology-confirmed HMCF. The cases were collected via solicitation through a private maternal-fetal medicine physician group on social media. Each contributing institution from across the United States ( n  = 9) obtained written informed consent from the patients directly, obtained institutional data transfer agreements as required, and transmitted the data using a Health Insurance Portability and Accountability Act of 1996 (HIPAA) compliant modality. Data collected included maternal, fetal/genetic, placental, and delivery characteristics. For descriptive analysis, continuous variables were reported as median with standard deviation and range. Results  Nine institutions contributed to the 14 cases collected. Nine (64%) cases of CHMCF were a product of assisted reproductive technology and one case was trizygotic. The median gestational age at diagnosis was 12 weeks and 2 days (9 weeks-19 weeks and 4 days), and over half were diagnosed in the first trimester. The median human chorionic gonadotropin (hCG) at diagnosis was 355,494 mIU/mL (49,770-700,486 mIU/mL). Placental mass size universally enlarged over the surveillance period. When invasive testing was performed, insufficient sample or no growth was noted in 40% of the sampled cases. Antenatal complications occurred in all delivered patients, with postpartum hemorrhage (71%) and hypertensive disorders of pregnancy (29%) being the most frequent outcomes. Delivery outcomes were variable. Four patients developed gestational trophoblastic neoplasia. Conclusion  This series is the largest report of obstetric outcomes for CHMCF to date and highlights the need to counsel patients about the severe maternal and fetal complications in continuing pregnancies, including progression to gestational trophoblastic neoplastic disease. Key Points CHMCF is a rare obstetric complication and may be associated with the use of assisted reproductive technology.Universally, patients with CHMCF who elected to manage expectantly developed antenatal complications.The risk of developing gestational trophoblastic neoplasia after CHMCF is high, and termination of the pregnancy did not decrease this risk.

目的:本研究的目的是回顾完全葡萄胎合并共存胎儿(CHMCF)的产科结果,这是一种罕见的临床实体,尚未得到很好的描述。材料和方法我们对病理证实的HMCF病例进行回顾性分析。这些病例是通过社交媒体上的私人母胎医学医生群征集而来的。来自美国各地的每个提供数据的机构(n = 9)直接获得了患者的书面知情同意,按要求获得了机构数据传输协议,并使用符合1996年《健康保险流通与责任法案》(HIPAA)的方式传输数据。收集的数据包括母体、胎儿/遗传、胎盘和分娩特征。对于描述性分析,连续变量报告为中位数,标准差和范围。结果9家机构共收集病例14例。9例(64%)CHMCF是辅助生殖技术的产物,1例为三合体。诊断时的中位胎龄为12周零2天(9周-19周零4天),超过一半的患者在妊娠早期被诊断。诊断时人绒毛膜促性腺激素(hCG)中位数为355,494 mIU/mL (49,770-700,486 mIU/mL)。胎盘团块在监测期间普遍增大。当进行侵入性检测时,在40%的样本病例中发现样本不足或没有生长。所有分娩的患者都出现了产前并发症,其中产后出血(71%)和妊娠高血压疾病(29%)是最常见的结局。分娩结果是可变的。4例患者发生妊娠滋养细胞瘤。该系列是迄今为止最大的关于CHMCF产科结局的报告,强调了在继续妊娠中向患者咨询严重的母胎并发症(包括进展为妊娠滋养细胞肿瘤疾病)的必要性。CHMCF是一种罕见的产科并发症,可能与辅助生殖技术的使用有关。一般来说,选择进行预期治疗的CHMCF患者会出现产前并发症。CHMCF后发生妊娠滋养细胞瘤的风险很高,终止妊娠并没有降低这种风险。
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引用次数: 1
Respiratory and Gastrointestinal Management of an Infant with a Birth Weight of 258 Grams. 出生体重258克婴儿的呼吸和胃肠道管理。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-10-25 eCollection Date: 2022-01-01 DOI: 10.1055/a-1678-3755
Ryo Itoshima, Arata Oda, Ryo Ogawa, Toshimitsu Yanagisawa, Takehiko Hiroma, Tomohiko Nakamura

Today, more infants weighing less than or equal to 300 g are born, and they survive because of the improvements in neonatal care and treatment. However, their detailed clinical course and neonatal intensive care unit management remain unknown due to their low survival rate and dearth of reports. A male infant was born at 24 weeks and 5 days of gestation and weighed 258 g. The infant received 72 days of invasive and 92 days of noninvasive respiratory support, including high-frequency oscillatory ventilation with volume guarantee and noninvasive neurally adjusted ventilatory assist. Meconium-related ileus was safely treated using diatrizoate. Although the infant was diagnosed with severe bronchopulmonary dysplasia and retinopathy of prematurity requiring laser photocoagulation, he had no other severe complications. He was discharged 201 days postdelivery (3 months of corrected age) with a weight of 3.396 kg. Although managing infants weighing less than or equal to 300 g is difficult, our experience shows that it is possible by combining traditional and modern management methods. The management of such infants requires an understanding of the expected difficulties and adaptation of existing methods to their management. The management techniques described here should help improve their survival and long-term prognosis.

今天,更多体重小于或等于300克的婴儿出生,由于新生儿护理和治疗的改善,他们存活了下来。然而,由于其低存活率和缺乏报道,其详细的临床过程和新生儿重症监护病房管理仍然未知。一名男婴在妊娠24周零5天出生,体重258克。患儿接受72天有创呼吸支持和92天无创呼吸支持,包括有容量保证的高频振荡通气和无创神经调节通气辅助。粪相关的肠梗阻是安全的使用散位治疗。虽然婴儿被诊断患有严重的支气管肺发育不良和早产儿视网膜病变,需要激光光凝,但他没有其他严重的并发症。产后201天(矫正月龄3个月)出院,体重3.396 kg。虽然管理体重小于或等于300克的婴儿很困难,但我们的经验表明,将传统和现代管理方法结合起来是可能的。这些婴儿的管理需要了解预期的困难和现有的方法适应他们的管理。这里描述的管理技术应该有助于改善他们的生存和长期预后。
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引用次数: 0
Less Invasive Surfactant Administration in Very Prematurely Born Infants. 极早产儿微创表面活性剂应用。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-07-01 DOI: 10.1055/s-0041-1735632
Sandeep Shetty, Helen Egan, Peter Cornuaud, Anay Kulkarni, Donovan Duffy, Anne Greenough

Background  Less invasive surfactant administration (LISA) is the preferred mode of surfactant administration for spontaneously breathing preterm babies supported by noninvasive ventilation (NIV). Objective  The aim of this study was to determine whether LISA on the neonatal unit or in the delivery suite was associated with reduced rates of bronchopulmonary dysplasia (BPD) or the need for intubation, or lower durations of invasive ventilation and length of hospital stay (LOS). Methods  A historical comparison was undertaken. Each "LISA" infant was matched with two infants (controls) who did not receive LISA. Results  The 25 LISA infants had similar gestational ages and birth weights to the 50 controls (28 [25.6-31.7] weeks vs. 28.5 [25.4-31.9] weeks, p  = 0.732; 1,120 (580-1,810) g vs. 1,070 [540-1,869] g, p  = 0.928), respectively. LISA infants had lower requirement for intubation (52 vs. 90%, p  < 0.001), shorter duration of invasive ventilation (median 1 [0-35] days vs. 6 [0-62] days p  = 0.001) and a lower incidence of BPD (36 vs. 64%, p  = 0.022). There were no significant differences in duration of NIV (median 26 [3-225] vs. 23 [2-85] days, p  = 0.831) or the total LOS (median 76 [24-259] vs. 85 [27-221], p  = 0.238). Conclusion  LISA on the neonatal unit or the delivery suite was associated with a lower BPD incidence, need for intubation, and duration of invasive ventilation.

背景无创表面活性剂给药(LISA)是无创通气(NIV)支持下自主呼吸早产儿表面活性剂给药的首选方式。目的:本研究的目的是确定新生儿病房或分娩套房的LISA是否与支气管肺发育不良(BPD)发生率或插管需求降低、有创通气持续时间缩短和住院时间(LOS)缩短有关。方法进行历史比较。每个“LISA”婴儿与两个没有接受LISA的婴儿(对照)相匹配。结果25例LISA患儿的胎龄和出生体重与50例对照组相似(28[25.6-31.7]周vs. 28.5[25.4-31.9]周,p = 0.732;分别为1,120 (580 ~ 1,810)g和1,070 [540 ~ 1,869]g, p = 0.928)。LISA患儿插管需求较低(52%对90%,p p = 0.001), BPD发生率较低(36%对64%,p = 0.022)。NIV持续时间(中位数26[3-225]对23[2-85]天,p = 0.831)或总LOS(中位数76[24-259]对85 [27-221],p = 0.238)无显著差异。结论:新生儿病房或分娩套房的LISA与较低的BPD发生率、插管需求和有创通气持续时间相关。
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引用次数: 5
Association between Maternal Obesity Class, Adherence to Labor Guidelines, and Perinatal Outcomes. 孕产妇肥胖等级、遵守分娩指南与围产期结果之间的关系。
IF 0.8 Q4 PEDIATRICS Pub Date : 2021-04-01 Epub Date: 2021-07-15 DOI: 10.1055/s-0041-1732409
Irene A Stafford, Ahmed S Z Moustafa, Lauren Spoo, Alexandra Berra, Angela Burgess, Mark Turrentine

Background  Data are limited concerning rates of perinatal complications in women with a body mass index (BMI) ≥40 kg/m2 compared to women with other BMI classes when guidelines for the safe prevention of the primary cesarean delivery are applied. Objective  The aim of the study is to evaluate labor guideline adherence by BMI class and to compare perinatal outcomes across BMI classes with guideline adherent management. Study Design  This retrospective study included low-risk women admitted for delivery between April 2014 and April 2017 after the labor guidelines were implemented. BMI closest to delivery was used for analysis. Women with cesarean for nonreassuring fetal status were excluded. Results  Guideline adherence decreased with increasing BMI, with 93% adherence among women of normal weight compared to 81% for class III obese women ( p  < 0.0001). Among women who had guideline-adherent management, there was increased rates of cesarean among class III versus other obesity classes; however, there were no differences in rates of infectious morbidity ( p  = 0.98) or hemorrhage ( p  = 0.93). Although newborns of women with class III obesity had higher rates of meconium at birth, neonatal outcomes were not different with increasing maternal BMI ( p  = 0.65). Conclusion  There were no differences in adverse perinatal outcomes with increasing BMI.

背景 有关体重指数(BMI)≥40 kg/m2 的产妇与其他 BMI 等级的产妇在应用安全预防初次剖宫产指南时的围产期并发症发生率的数据有限。研究目的 评估 BMI 等级对分娩指南的依从性,并比较依从指南管理的 BMI 等级的围产期结果。研究设计 这项回顾性研究纳入了 2014 年 4 月至 2017 年 4 月分娩指南实施后入院分娩的低风险产妇。采用分娩时最接近的 BMI 值进行分析。不包括因胎儿状态不稳定而进行剖宫产的产妇。结果 指南的遵守率随着体重指数的增加而降低,体重正常产妇的遵守率为 93%,而三级肥胖产妇(P = 0.98)或大出血产妇(P = 0.93)的遵守率为 81%。虽然 III 级肥胖产妇的新生儿出生时胎粪率较高,但新生儿的预后并没有随着产妇体重指数的增加而不同 ( p = 0.65)。结论 围产期不良结局与体重指数的增加没有差异。
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引用次数: 0
Critical Congenital Heart Disease Detection in the Screening Era: Do Not Neglect the Examination! 筛查时代先天性心脏病的关键检测:不要忽视检查!
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-04-01 Epub Date: 2021-06-16 DOI: 10.1055/s-0041-1727275
Deepika Sankaran, Heather Siefkes, Frank F Ing, Satyan Lakshminrusimha, Francis R Poulain

Pulse oximetry oxygen saturation (SpO 2 )-based critical congenital heart disease (CCHD) screening is effective in detection of cyanotic heart lesions. We report a full-term male infant with normal perfusion who had passed the CCHD screening at approximately 24 hours after birth with preductal SpO 2 of 99% and postductal SpO 2 of 97%. Detection of a loud systolic cardiac murmur before discharge led to the diagnosis of pulmonary atresia (PA) with ventricular septal defect (PA-VSD) by echocardiogram. The infant was transferred to a tertiary care center after initiation of prostaglandin E1 (PGE1) therapy. Throughout the initial course, he was breathing comfortably without respiratory distress or desaturations on pulse oximetry. We believe that this is the first documented report of PA missed by CCHD screening. Thorough and serial clinical examinations of the newborn infant proved vital in the timely diagnosis of this critical disease. We review the hemodynamics and the recent literature evaluating utility of CCHD screening in the diagnosis of PA-VSD. Pulse oximetry-based CCHD screening should be considered a tool to enhance CCHD detection with an emphasis on detailed serial physical examinations in newborn infants.

脉搏血氧饱和度(SpO 2)为基础的危重先天性心脏病(CCHD)筛查是一种有效的紫绀型心脏病变的检测方法。我们报告一个足月男婴,灌注正常,出生后约24小时通过CCHD筛查,产前spo2为99%,产后spo2为97%。出院前发现收缩期心脏杂音,超声心动图诊断为肺动脉闭锁合并室间隔缺损。在开始前列腺素E1 (PGE1)治疗后,婴儿被转移到三级护理中心。在整个初始疗程中,患者呼吸舒适,无呼吸窘迫或脉搏血氧饱和度过低。我们认为这是首个在CCHD筛查中遗漏PA的文献报告。对新生儿进行彻底和连续的临床检查对于及时诊断这一严重疾病至关重要。我们回顾了血流动力学和最近的文献评估CCHD筛查在PA-VSD诊断中的应用。基于脉搏血氧仪的CCHD筛查应被视为一种加强CCHD检测的工具,重点是对新生儿进行详细的系列体格检查。
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引用次数: 1
Neonatal Atypical Hemolytic Uremic Syndrome in the Eculizumab Era. Eculizumab时代的新生儿非典型溶血性尿毒症综合征。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-04-01 Epub Date: 2021-06-23 DOI: 10.1055/s-0041-1731057
Sara Madureira Gomes, Rita Pissarra Teixeira, Gustavo Rocha, Paulo Soares, Hercilia Guimaraes, Paulo Santos, Joana Jardim, João Luís Barreira, Helena Pinto

The atypical hemolytic uremic syndrome (aHUS) in the newborn is a rare disease, with high morbidity. Eculizumab, considered a first-line drug in older children, is not approved in neonates and in children weighing less than 5 kg. We present a 5-day-old female newborn, born at 36 weeks' twin gestation, by emergency cesarean section due to cord prolapse, with birth weight of 2,035 g and Apgar score of 7/7/7, who develops microangiopathic hemolytic anemia, thrombocytopenia, and progressive acute renal failure. In day 5, after diagnosis of aHUS, a daily infusion of fresh frozen plasma begins, with improvement of thrombocytopenia and very slight improvement in renal function. The etiologic study (congenital infection, Shiga toxin, ADAMTS13 activity, directed metabolic study) was normal. C3c was slightly decreased. On day 16 for maintenance of anemia and severe renal failure, she started 300 mg/dose eculizumab. Anemia resolves in 10 weeks and creatinine has normal values after 13 weeks of treatment. The genetic study was normal. In this case, eculizumab is effective in controlling microangiopathy and in the recovery of renal function. Diagnosis of neonatal aHUS can be challenging because of phenotypic heterogeneity and potential overlap with other manifestations that may confound it, such as perinatal asphyxia or sepsis/disseminated intravascular coagulation.

新生儿非典型溶血性尿毒症综合征(aHUS)是一种罕见的疾病,发病率高。Eculizumab被认为是大龄儿童的一线药物,但未被批准用于新生儿和体重低于5公斤的儿童。我们报告一名5天大的女婴,双胎妊娠36周,因脐带脱垂急诊剖宫产,出生体重为2035 g, Apgar评分为7/7/7,出现微血管病性溶血性贫血、血小板减少和进行性急性肾功能衰竭。在诊断出aHUS后的第5天,开始每天输注新鲜冷冻血浆,血小板减少症得到改善,肾功能有非常轻微的改善。病因学研究(先天性感染、志贺毒素、ADAMTS13活性、定向代谢研究)正常。C3c略有下降。在维持贫血和严重肾衰竭的第16天,她开始使用300mg /剂量的eculizumab。10周后贫血消退,13周后肌酐恢复正常。基因研究是正常的。在这种情况下,eculizumab在控制微血管病变和恢复肾功能方面是有效的。新生儿aHUS的诊断可能具有挑战性,因为其表型异质性和与其他可能混淆其表现的潜在重叠,如围产期窒息或败血症/弥漫性血管内凝血。
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引用次数: 0
Acute Otitis Media in an Extremely Preterm Infant. 极早产儿急性中耳炎一例。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-04-01 Epub Date: 2021-06-23 DOI: 10.1055/s-0041-1731315
Aashika Janwadkar, Shirley Louis, Sheri L Nemerofsky

There are a limited number of documented cases of acute otitis media (AOM) in preterm infants while hospitalized in the neonatal intensive care unit (NICU). We present a case of a former 26 weeks old infant who at 29 weeks, 6 days postmenstrual age presented with acute signs and symptoms of systemic sepsis subsequently found to be secondary to AOM with purulent ear drainage. The patient received a septic evaluation, including urine, blood, and cerebrospinal fluid studies. Treatment included intravenous antibiotics with full resolution of symptoms. AOM in extreme preterm infants is multifactorial, with leading causes that include prematurity, the use of oropharyngeal and nasogastric tube placement and endotracheal intubation, eustachian tube dysfunction, and a distinct immune response. To our knowledge, there is not another published case of AOM of a preterm baby while in the NICU.

在新生儿重症监护病房(NICU)住院的早产儿中,急性中耳炎(AOM)的记录病例有限。我们报告一例26周大的婴儿,在29周后6天出现全身性败血症的急性体征和症状,随后发现继发于AOM并化脓性耳部引流。患者接受了脓毒性评估,包括尿液、血液和脑脊液检查。治疗包括静脉注射抗生素,症状完全缓解。极端早产儿急性急性呼吸道感染是多因素的,主要原因包括早产、使用口咽管和鼻胃管以及气管内插管、咽鼓管功能障碍和明显的免疫反应。据我们所知,还没有另一个在新生儿重症监护室的早产儿的AOM发表的病例。
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引用次数: 1
Report of a Confirmed SARS-CoV-2 Positive Newborn after Delivery Despite Negative SARS-CoV-2 Testing on Both Parents. 尽管父母双方的SARS-CoV-2检测均为阴性,但分娩后确诊新生儿SARS-CoV-2阳性的报告。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-04-01 Epub Date: 2021-06-16 DOI: 10.1055/s-0041-1728783
Benjamin R Harding, Farha Vora

We present a case of a term infant born to an asymptomatic mother at a community hospital who required transfer to a local neonatal intensive care unit (NICU) immediately after birth for respiratory distress. The infant was tested for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) at 24 hours of life by reverse transcription polymerase chain reaction (RT-PCR) testing due to the absence of prenatal maternal COVID-19 testing and was found to be positive for SARS-CoV-2 at that time. A second RT-PCR test was obtained on the infant on day of life (DOL) 4 and was also positive, confirming an accurate diagnosis of COVID-19 disease in the infant. Both the mother and father remained asymptomatic and concomitantly tested negative for SARS-CoV-2 on two separate occasions. The infant subsequently clinically improved and was discharged without any complications. This case raises the potential concern for two unreported newborn issues related to COVID-19. First, the potential unreliability of negative maternal COVID-19 testing surrounding the time of delivery as it relates to routine newborn testing and isolation needs, and second, if the negative material testing was accurate, this raises the concern for a potential case of nosocomial COVID-19 infection within the first 24 hours of life.

我们提出一个病例足月婴儿出生的母亲无症状在社区医院谁需要转移到当地新生儿重症监护病房(NICU)出生后立即呼吸窘迫。由于未进行产前母体COVID-19检测,该婴儿在出生后24小时通过逆转录聚合酶链反应(RT-PCR)检测进行了严重急性呼吸综合征冠状病毒2 (SARS-CoV-2)检测,当时发现该婴儿SARS-CoV-2阳性。在婴儿出生第4天(DOL)进行了第二次RT-PCR检测,结果也呈阳性,证实了婴儿COVID-19疾病的准确诊断。母亲和父亲都没有出现症状,并在两次不同的情况下对SARS-CoV-2进行了阴性检测。婴儿随后临床好转,出院时无任何并发症。该病例引发了对与COVID-19相关的两个未报告新生儿问题的潜在关注。首先,产妇在分娩前后进行的COVID-19阴性检测可能不可靠,因为这涉及到常规新生儿检测和隔离需求;其次,如果阴性物质检测是准确的,这就会引起人们对出生后24小时内可能发生院内感染病例的担忧。
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引用次数: 2
A Case of an Extremely Low Birth Weight Infant with Morganella morganii Bacteremia and Peritonitis. 极低出生体重儿莫氏菌菌血症并发腹膜炎1例。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-04-01 Epub Date: 2021-08-19 DOI: 10.1055/s-0041-1732407
Betty Pham, Anne Denslow, Michel Mikhael, Jina Lim

We describe a case of late onset Morganella morganii sepsis in an extremely low birth weight male neonate born at 23 and 4/7 weeks gestational age to a 30-year-old primigravid mother due to preterm labor. The mother was otherwise healthy with an unremarkable prenatal course. She received steroids and ampicillin prior to delivery. While initial blood cultures were negative, at day of life 4, the neonate developed signs of sepsis with leukocytosis and bandemia, and subsequent blood culture demonstrated growth of M. morganii . The patient then had spontaneous intestinal perforation on day of life 8 with peritoneal cultures growing M. morganii . The infant responded to standard therapy and survived to discharge, with few mild developmental delays upon outpatient follow-up. While M. morganii has been demonstrated in the neonatal population, it generally causes early onset sepsis and is associated with high mortality in preterm neonates. Here, we present this case of late onset neonatal sepsis with M. morganii complicated by spontaneous intestinal perforation, with survival in a 23 weeks gestation infant.

我们描述了一例迟发性莫氏摩根菌脓毒症在一个极低出生体重的男性新生儿出生在23和4/7周胎龄一个30岁的原孕母亲由于早产。母亲在其他方面都很健康,产前过程也很正常。她在分娩前接受了类固醇和氨苄西林治疗。虽然最初的血培养是阴性的,但在出生第4天,新生儿出现了脓毒症的迹象,包括白细胞增多和贫血,随后的血培养显示出莫氏分枝杆菌的生长。患者在出生第8天发生自发性肠穿孔,腹膜培养生长莫氏分枝杆菌。婴儿对标准治疗有反应,存活至出院,在门诊随访时几乎没有轻微的发育迟缓。虽然莫氏分枝杆菌已在新生儿人群中得到证实,但它通常会导致早发性败血症,并与早产儿的高死亡率有关。在这里,我们提出了这例迟发性新生儿脓毒症与莫氏分枝杆菌合并自发性肠穿孔,与生存的23周妊娠婴儿。
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引用次数: 1
Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant. 疑为线状肌病的早产儿深度低张力和呼吸衰竭。
IF 0.9 Q4 PEDIATRICS Pub Date : 2021-04-01 Epub Date: 2021-06-23 DOI: 10.1055/s-0041-1728782
Gloria Akuamoah-Boateng, Raymond C Stetson, Bethany D Kaemingk, David A Bieber, Jane E Brumbaugh

Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 32 6/7 weeks' gestation, who was profoundly hypotonic and required intubation at birth. His clinical course progressed from acute to chronic respiratory failure with mechanical ventilation dependence. He developed bilateral chylous pleural effusions during the newborn period. Whole exome sequencing identified an ACTA1 gene mutation leading to the presumed diagnosis of nemaline myopathy. This case highlights the need to include congenital myopathies in the differential for a preterm newborn with hypotonia and respiratory failure.

先天性肌病,如线状肌病,可能在新生儿时期出现张力低下和呼吸衰竭。乳糜积液的发展可进一步损害患儿的呼吸功能。我们提出的情况下,早产男婴出生在32 6/7周妊娠,谁是深度低渗和需要插管出生。他的临床过程由急性到慢性呼吸衰竭并依赖机械通气。他在新生儿时期出现双侧乳糜胸膜积液。全外显子组测序鉴定出ACTA1基因突变导致线状肌病的推定诊断。本病例强调需要包括先天性肌病在鉴别早产新生儿低张力和呼吸衰竭。
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引用次数: 1
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