Seminars in perinatology最新文献

Ethics, obligations, and imperatives in neonatology. 新生儿学的伦理、义务和必要性。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-07-12 DOI: 10.1016/j.semperi.2025.152113

Christy L Cummings

引用次数: 0

Genetic and epigenetic contributors and mimickers of phenotypic hypoxic-ischemic encephalopathy (HIE). 表现型缺氧缺血性脑病（HIE）的遗传和表观遗传因素和模拟因子。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-07-01 DOI: 10.1016/j.semperi.2025.152112

Ulrike Mietzsch, Janessa B Law, Basel Thayyil, Danny E Miller, Thomas R Wood, Niranjana Natarajan, Khorshid Mohammad

{"title":"Genetic and epigenetic contributors and mimickers of phenotypic hypoxic-ischemic encephalopathy (HIE).","authors":"Ulrike Mietzsch, Janessa B Law, Basel Thayyil, Danny E Miller, Thomas R Wood, Niranjana Natarajan, Khorshid Mohammad","doi":"10.1016/j.semperi.2025.152112","DOIUrl":"https://doi.org/10.1016/j.semperi.2025.152112","url":null,"abstract":"Hypoxic-ischemic encephalopathy (HIE) remains one of the leading causes of neonatal morbidity and mortality despite advancement in care. Over 60 % of infants presenting with phenotypic HIE lack a clear identifiable acute sentinel event. Clinical genetic testing in neonates with suspected HIE has uncovered an increasing number of genetic conditions and epigenetic modifications that impair their ability to tolerate the stress of labor and delivery or exacerbate the severity of clinical symptoms following a hypoxic-ischemic insult. While most of those conditions are rare, many of the identified alterations involve common biological pathways and organ systems - particularly those affecting energy metabolism or the function of cells and organs of high energy demand such as brain, heart, and skeletal muscle - as well as genetic epilepsies. Here we provide an overview of the genetic makeup and epigenetic signatures associated with HIE and the insights they have provided into distinguishing genetic etiologies from true HIE. By outlining modern genetic testing modalities and their clinical applications, we provide a structured diagnostic approach for clinicians evaluating neonates with phenotypic HIE and highlight the clinical and therapeutic implications of early genetic diagnosis. This review underscores the critical importance of recognizing that HIE may not always represent a purely hypoxic-ischemic etiology, but rather a final common pathway influenced by underlying genetic predisposition and environmental factors that highlight the potential for precision medicine approaches to improve outcomes in this vulnerable population.","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":" ","pages":"152112"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144554385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parental mental health & well-being in the NICU: Addressing the surgeon general's advisory. 新生儿重症监护室的父母心理健康与福祉：解决外科医生的建议。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-07-01 DOI: 10.1016/j.semperi.2025.152111

Kara Hansen, Tiffany Gladdis, Stephanie Kukora

引用次数: 0

Looking beyond diagnoses to functioning: using the F words and personalizing care in neonatology. 从诊断到功能：在新生儿学中使用F词和个性化护理。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-06-18 DOI: 10.1016/j.semperi.2025.152102

Emilie Thivierge, Thuy Mai Luu, Peter Rosenbaum, Paige Terrien Church, Rebecca Pearce, Annie Janvier

{"title":"Looking beyond diagnoses to functioning: using the F words and personalizing care in neonatology.","authors":"Emilie Thivierge, Thuy Mai Luu, Peter Rosenbaum, Paige Terrien Church, Rebecca Pearce, Annie Janvier","doi":"10.1016/j.semperi.2025.152102","DOIUrl":"10.1016/j.semperi.2025.152102","url":null,"abstract":"Extreme prematurity is associated with significant risk of mortality and morbidities. Neonatal follow-up assesses health outcomes of babies as they grow older to improve care and contribute to research and quality improvement initiatives. Recent investigations demonstrate that parents and clinicians/researchers disagree about what is defined as a \"severe outcome\". Families report they need balanced information about functioning rather than medical diagnoses. Many functional domains other than the presence/absence of impairment are not evaluated during neonatal follow-up. This article recommends how to shift communication with parents of preterm infants throughout the NICU hospitalization - from discussions that are medicalized and deficit-based to those that reflect the processes of growth and development. This includes understanding family-important outcomes and how to communicate with parents using the 'F-words' for child development based on the World Health Organization's integrated biopsychosocial framework for health: Functioning, Family, Fitness, Fun, Friends, and Future.","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":" ","pages":"152102"},"PeriodicalIF":3.2,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis. 结束遗传例外论：重构用于新生儿快速诊断的基因组测序伦理。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-06-14 DOI: 10.1016/j.semperi.2025.152110

Kaiulani S Shulman, Kristen Fishler Malone, Hadley Stevens Smith, Bimal P Chaudhari, Monica H Wojcik

引用次数: 0

Ethical challenges and justice concerns for infants and children with life-limiting conditions and significant disability, including trisomy 13 and 18. 有生命限制条件和严重残疾的婴儿和儿童的伦理挑战和正义问题，包括13和18三体。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-06-13 DOI: 10.1016/j.semperi.2025.152101

Alaina K Pyle, Mark R Mercurio

{"title":"Ethical challenges and justice concerns for infants and children with life-limiting conditions and significant disability, including trisomy 13 and 18.","authors":"Alaina K Pyle, Mark R Mercurio","doi":"10.1016/j.semperi.2025.152101","DOIUrl":"https://doi.org/10.1016/j.semperi.2025.152101","url":null,"abstract":"Some life-limiting conditions associated with significant neurodevelopmental impairment, such as trisomy 13/18, have historically been considered lethal, thus medical or surgical treatments would be inappropriate. Evolving literature has shown that early death is not universal, and though all who survive with trisomy 13/18 will have significant impairments, some experience a positive quality of life. The presence of bias impacts counseling as well as what interventions are offered and/or provided to families of a child with anticipated significant disability. Shared decision-making processes should include parents receiving all relevant information about comfort care as well as available, indicated, and ethically permissible medical/surgical interventions. Ethical frameworks can help clarify which options would be permissible to offer or withhold on an individualized basis. Clinicians are encouraged to be open to revisiting past and sometimes long-established practices regarding patients with disability. A willingness to change should not be perceived as an indictment of past practice.","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":" ","pages":"152101"},"PeriodicalIF":3.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144294924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Climate change and environmental degradation: bioethical considerations and impact for neonatal care. 气候变化和环境退化：对新生儿护理的生物伦理考虑和影响。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-06-12 DOI: 10.1016/j.semperi.2025.152099

McKenna F Parnes, Luke Mosley, Heather H Burris, Elliott Mark Weiss

引用次数: 0

Disability, ableism, and decision-making at extreme prematurity. 残疾，残障，以及过早的决策。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-06-10 DOI: 10.1016/j.semperi.2025.152098

Anne Sullivan, Jennifer Arnold, Sheria Wilson, Kaiulani Shulman, Fabiana Bacchini, Paige Church

引用次数: 0

Preserving medical ethics in the era of artificial intelligence: Challenges and opportunities in neonatology. 维护人工智能时代的医学伦理：新生儿科的挑战与机遇。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-06-04 DOI: 10.1016/j.semperi.2025.152100

Tanima Arora, Habeebah Muhammad-Kamal, Kristyn Beam

引用次数: 0

Injustice and inequality in the provision of perinatal palliative care. 提供围产期姑息治疗方面的不公正和不平等。

IF 3.2 3区医学

Seminars in perinatology Pub Date : 2025-06-03 DOI: 10.1016/j.semperi.2025.152097

Matthew Lin, Sophie Bertaud, Dominic Wilkinson

引用次数: 0