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Pallister-Killian Syndrome. 帕利斯特-基利安综合征
Q2 Medicine Pub Date : 2024-11-01 DOI: 10.1542/neo.25-11-e751
Ritu Chitkara, Valerie Chock, Richard Barth, Hisham Dahmoush, Carly Smith, Dena R Matalon, Melissa Herring, Susan Hintz
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引用次数: 0
Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis. 极低出生体重儿的异常皮肤症状:遗传诊断。
Q2 Medicine Pub Date : 2024-11-01 DOI: 10.1542/neo.25-11-e747
L Elizabeth Ricker, Matthew Saxonhouse, Lauren Carter
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引用次数: 0
Alloimmunization in Pregnancy: Implications for the Fetus and Neonate. 妊娠期同种免疫:对胎儿和新生儿的影响。
Q2 Medicine Pub Date : 2024-11-01 DOI: 10.1542/neo.25-11-e742
Scott N MacGregor

Blood group or red cell alloimmunization occurs when a pregnant patient has produced antibodies to a blood group antigen possessed by the fetus and not possessed by the pregnant patient. Maternal antibodies are usually produced as an immune response to fetal-maternal bleeding or blood product transfusion. Prevention remains the most important strategy to avoid the formation of maternal antibodies or alloimmunization. Maternal alloimmunization may result in transplacental passage of these antibodies into the fetal circulation and the potential for fetal or neonatal hemolysis and anemia. Red cell alloimmunization can result in significant perinatal morbidity and mortality. Management of alloimmunization in pregnant patients should be protocol-driven. Current strategies for assessment and therapies allow for more thorough and less invasive management with risks to mother and fetus.

血型或红细胞同种免疫是指孕妇体内产生了胎儿所具有而孕妇不具有的血型抗原抗体。母体抗体的产生通常是对胎儿-母体出血或输血产品的免疫反应。预防仍是避免形成母体抗体或同种免疫的最重要策略。母体同种免疫可能导致这些抗体经胎盘进入胎儿血液循环,并可能导致胎儿或新生儿溶血和贫血。红细胞同种免疫可导致严重的围产期发病率和死亡率。妊娠期患者的同种异体免疫管理应根据方案进行。目前的评估和治疗策略可以对母亲和胎儿进行更彻底、侵入性更小的管理。
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引用次数: 0
Term Neonate With Right-Sided Limb Swelling: A Potpourri of Etiology and Complication. 右侧肢体肿胀的足月新生儿:病因和并发症杂烩。
Q2 Medicine Pub Date : 2024-11-01 DOI: 10.1542/neo.25-11-e729
Tehsin Patel, Abhilasha Kumari, Prashanth Ranya Raghavendra, Sruthi Nair, Anitha Haribalakrishna, Sumeet Anant Dhulshette, Hemangini Thakkar, Patil Varun Praveen, Shivam Sushilkumar Shukla
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引用次数: 0
Hemoglobinopathies in the Neonate. 新生儿血红蛋白病。
Q2 Medicine Pub Date : 2024-11-01 DOI: 10.1542/neo.25-11-e720
Katrina Blankenhorn, Kaitlin Strumph

Hemoglobinopathies in neonates constitute a group of disorders influenced by genetic mutations in the human globin genes. They are often broadly categorized into quantitative defects or qualitative defects, though they are not mutually exclusive. In quantitative defects, the mutation causes insufficient production of a normal globin chain, which can range from no production to mild deficiency. These are typically referred to as thalassemias. In qualitative defects, the structure of the hemoglobin is altered. The most common structural hemoglobinopathy is sickle cell disease. During fetal development, distinct globin chains are synthesized, which undergo a progressive switch to adult globin chains perinatally. This affects the timing of the clinical presentation of these disorders and thus, our ability to diagnose them. In this review, we focus on the epidemiology, genetic causes, clinical presentation, and general overview and management of common hemoglobin disorders that may be encountered in the neonatal period.

新生儿血红蛋白病是一组受人类球蛋白基因突变影响的疾病。这些疾病通常可大致分为定量缺陷和定性缺陷,但两者并不相互排斥。在定量缺陷中,基因突变会导致正常球蛋白链的生成不足,从不曾生成到轻度缺乏不等。这些通常被称为地中海贫血症。在定性缺陷中,血红蛋白的结构发生了改变。最常见的结构性血红蛋白病是镰状细胞病。在胎儿发育过程中,会合成不同的球蛋白链,并在围产期逐渐转变为成人球蛋白链。这影响了这些疾病的临床表现时间,从而影响了我们的诊断能力。在这篇综述中,我们将重点介绍新生儿期常见血红蛋白病的流行病学、遗传原因、临床表现、一般概述和处理方法。
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引用次数: 0
A Neonate with Refractory Seizures. 一名患有难治性癫痫的新生儿
Q2 Medicine Pub Date : 2024-10-01 DOI: 10.1542/neo.25-10-e652
Prashanth Somaraj Urs, Gurucharan Adoor, Basila Thekkeveettil, Anup Ithihas
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引用次数: 0
Perioperative Quality Improvement in Children's Hospitals Neonatal Consortium NICUs. 儿童医院新生儿联盟新生儿重症监护室围手术期质量改进。
Q2 Medicine Pub Date : 2024-10-01 DOI: 10.1542/neo.25-10-e601
Thomas Bartman, Priscilla Joe, Laurel Moyer

Infants admitted to NICUs in children's hospitals represent a different population than those in a traditional birth hospital. The patients in a children's hospital NICU often have the most complex neonatal diagnoses and are cared for by various subspecialists. The Children's Hospitals Neonatal Consortium is a collaborative of more than 40 NICUs that collect data and perform quality improvement (QI) work across the United States and Canada. The collaborative's database provides an opportunity to benchmark clinical outcomes for this specialized population and to support the QI efforts. In this review, we summarize the success of individual collaborative QI projects focused on improving the care of the neonate in the perioperative period related to clinical team handoffs, postoperative hypothermia prevention, and improvement of postoperative pain management. The collaborative's experience can serve as a model for other national collaboratives seeking to support QI efforts.

儿童医院新生儿重症监护室收治的婴儿与传统出生医院的婴儿不同。儿童医院新生儿重症监护室的病人通常具有最复杂的新生儿诊断,并由不同的亚专科医生进行护理。儿童医院新生儿联盟是一个由 40 多家新生儿重症监护室组成的合作组织,在美国和加拿大收集数据并开展质量改进(QI)工作。该联盟的数据库为这一特殊人群的临床结果提供了基准,并为 QI 工作提供了支持。在这篇综述中,我们总结了各个协作组 QI 项目的成功经验,这些项目侧重于改善围手术期新生儿的护理,涉及临床团队交接、术后低体温预防和术后疼痛管理的改善。该合作组织的经验可以为其他寻求支持 QI 工作的全国性合作组织提供借鉴。
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引用次数: 0
Delivery Room Management of Infants with Surgical Conditions. 手术婴儿的产房管理。
Q2 Medicine Pub Date : 2024-10-01 DOI: 10.1542/neo.25-10-e612
K Taylor Wild, Anne M Ades, Holly L Hedrick, Lauren Heimall, Julie S Moldenhauer, Olivia Nelson, Elizabeth E Foglia, Natalie E Rintoul

Delivery room resuscitation of infants with surgical conditions can be complex and depends on an experienced and cohesive multidisciplinary team whose performance is more important than that of any individual team member. Existing resuscitation algorithms were not developed for infants with congenital anomalies, and delivery room resuscitation is largely dictated by expert opinion extrapolating physiologic expectations from infants without anomalies. As prenatal diagnosis rates improve, there is an increased ability to plan for the unique delivery room needs of infants with surgical conditions. In this review, we share expert opinion, including our center's delivery room management for neonatal noncardiac surgical conditions, and highlight knowledge gaps and the need for further studies and evidence-based practice to be incorporated into the delivery room care of infants with surgical conditions. Future research in this area is essential to move from an expert-based approach to a data-driven approach to improve and individualize delivery room resuscitation of infants with surgical conditions.

在产房对患有外科疾病的婴儿进行复苏可能非常复杂,这有赖于一个经验丰富、团结一致的多学科团队,团队成员的表现比任何个人的表现都更重要。现有的复苏算法并非针对先天性畸形婴儿而制定,产房复苏在很大程度上是由专家根据无畸形婴儿的生理预期而推断出来的。随着产前诊断率的提高,针对患有外科疾病婴儿的独特产房需求制定计划的能力也在增强。在这篇综述中,我们分享了专家的意见,包括我们中心对新生儿非心脏手术情况的产房管理,并强调了知识差距以及进一步研究和循证实践的必要性,以便将其纳入对有手术情况婴儿的产房护理中。要从以专家为基础的方法转变为以数据为导向的方法,以改善手术患儿的产房复苏并使之个性化,就必须在这一领域开展未来的研究。
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引用次数: 0
A Neonate with Anemia and Diarrhea. 一名患有贫血和腹泻的新生儿。
Q2 Medicine Pub Date : 2024-10-01 DOI: 10.1542/neo.25-10-e648
Trusha More, Sruthi Nair, Shweta Mhatre, Prashanth Ranya Raghavendra, Anitha Haribalakrishna
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引用次数: 0
Cutting into the NICU: Improvements in Outcomes for Neonates with Surgical Conditions. 切入新生儿重症监护室:改善手术新生儿的治疗效果。
Q2 Medicine Pub Date : 2024-10-01 DOI: 10.1542/neo.25-10-e634
Stephanie L Bourque, Karna Murthy, Theresa R Grover, Loren Berman, Stefanie Riddle

The Children's Hospitals Neonatal Consortium (CHNC), established in 2010, seeks to improve care for infants with medically and surgically complex conditions who are cared for in level IV regional children's hospital NICUs across North America. Through patient-level individual data collection, comparative benchmarking, and multicenter quality improvement work, CHNC has contributed to knowledge and improved outcomes, leveraging novel collaborations between and across institutions. Focusing on antenatal and inpatient care for infants with surgical conditions including congenital diaphragmatic hernia, gastroschisis, and necrotizing enterocolitis, we summarize the progress made in these infants' care. We highlight the ways in which CHNC has enabled multidisciplinary and multicenter collaborations through the facilitation of diagnosis-specific focus groups, which enable comparative observations of outcomes through quality improvement and research initiatives. Finally, we review the importance of postbirth hospitalization needs of these infants and the application of telemedicine in this population.

儿童医院新生儿联盟(CHNC)成立于 2010 年,旨在改善北美地区 IV 级地区儿童医院新生儿重症监护室对患有复杂内外科疾病的婴儿的护理。通过患者层面的个人数据收集、比较基准和多中心质量改进工作,CHNC 利用机构之间的新型合作,为知识的积累和成果的改善做出了贡献。我们以患有先天性膈疝、胃裂和坏死性小肠结肠炎等外科疾病的婴儿的产前和住院护理为重点,总结了这些婴儿的护理进展。我们重点介绍了 CHNC 通过促进特定诊断焦点小组来促成多学科和多中心合作的方式,这些焦点小组可以通过质量改进和研究计划对结果进行比较观察。最后,我们回顾了这些婴儿出生后住院需求的重要性以及远程医疗在这一人群中的应用。
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引用次数: 0
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