RESUMO
Respiratory distress in the newborn is associated with numerous etiologies, some common and some rare. When respiratory distress is accompanied by laterality defects, namely, situs inversus (SI), the index of suspicion for comorbid primary ciliary dyskinesia (PCD) should be raised. Primary ciliary dyskinesia is characterized by ciliary dysmotility and the accumulation of thick secretions in the airways that obstruct air and gas exchange. Neonatal clinicians should know that while PCD is definitively diagnosed in infancy or early childhood, findings suspicious for PCD should be communicated to primary care providers at discharge from the hospital to facilitate timely subspecialty involvement, diagnosis, and treatment. This article will present a case report of a term newborn with SI totalis who was later diagnosed with PCD. We will discuss epidemiology, pathophysiology, clinical manifestations, and diagnostics, followed by management strategies. Additionally, we discuss the outpatient needs and lifespan implications.
Assuntos
Síndrome de Kartagener , Situs Inversus , Humanos , Recém-Nascido , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/complicações , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Situs Inversus/diagnósticoRESUMO
Wolff-Parkinson-White (WPW) syndrome is a rare cardiac condition arising from abnormal embryologic development of the annulus fibrosus in combination with the cardiac conduction system. The abnormality results in the development of accessory pathways and preexcitation changes which can provoke episodes of tachyarrhythmias. The most common presentation of WPW syndrome is supraventricular tachycardia. Beyond customary abortive therapy, chronic management strategies vary based upon timing and clinical severity of the initial disease presentation. Prompt diagnosis and rate control have a dramatic impact on the outcomes of morbidity and mortality. The purpose of this article is to present a case study of a preterm infant who manifested with WPW syndrome. Additionally, the article will explore the pathophysiology of WPW syndrome and the timing and presentation of common clinical manifestations of the disease, along with current diagnostic and treatment strategies to achieve optimal patient outcomes in the neonatal population.
Assuntos
Recém-Nascido Prematuro , Síndrome de Wolff-Parkinson-White , Humanos , Síndrome de Wolff-Parkinson-White/diagnóstico , Síndrome de Wolff-Parkinson-White/fisiopatologia , Síndrome de Wolff-Parkinson-White/terapia , Recém-Nascido , Eletrocardiografia , Masculino , FemininoRESUMO
Neonatal hypoglycemia (NH) is broadly defined as a low plasma glucose concentration that elicits hypoglycemia-induced impaired brain function. To date, no universally accepted threshold (reference range) for plasma glucose levels in newborns has been published, as data consistently indicate that neurologic responses to hypoglycemia differ at various plasma glucose concentrations. Infants at risk for NH include infants of diabetic mothers, small or large for gestational age, and premature infants. Common manifestations include jitteriness, poor feeding, irritability, and encephalopathy. Neurodevelopmental morbidities associated with NH include cognitive and motor delays, cerebral palsy, vision and hearing impairment, and poor school performance. This article offers a timely discussion of the state of the science of NH and recommendations for neonatal providers focused on early identification and disease prevention.
Assuntos
Hipoglicemia , Humanos , Hipoglicemia/etiologia , Hipoglicemia/diagnóstico , Recém-Nascido , Glicemia/análise , Glicemia/metabolismo , Enfermagem Neonatal/normas , Enfermagem Neonatal/métodos , Doenças do Recém-Nascido/diagnósticoRESUMO
Cytomegalovirus (CMV), a beta-herpes virus, is the most common viral infection in infants. Transmission may occur congenitally (cCMV) or postnatally (pCMV). Early detection and intervention are crucial in reducing morbidities, notable developmental delays, and sensorineural hearing loss. However, more than 90% of infants are asymptomatic at birth. Treatment involves intravenous ganciclovir or the oral prodrug, valganciclovir, drugs usually reserved for use with symptomatic infants because of the toxicity profile. Research currently supports standardized antenatal CMV screening and treatment of affected pregnant patients with hyperimmune globulin as well as vaccination against CMV in unaffected pregnant patients, although widespread adoption is lacking. Standardized postnatal CMV screening is a proven, cost-effective way to detect and diagnose CMV and optimize outcomes across the lifespan. This article presents a case series of cCMV and pCMV and a review of the state of science of CMV as well as promising scientific advances that are on the horizon.
Assuntos
Infecções por Citomegalovirus , Citomegalovirus , Feminino , Humanos , Recém-Nascido , Gravidez , Antivirais/uso terapêutico , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/tratamento farmacológico , Ganciclovir/farmacologia , Ganciclovir/uso terapêutico , Triagem Neonatal , Valganciclovir/farmacologia , Valganciclovir/uso terapêuticoRESUMO
Although a rare cause of neonatal seizures, inborn errors of metabolism (IEMs) remain an essential component of a comprehensive differential diagnosis for poorly controlled neonatal epilepsy. Diagnosing neonatal-onset metabolic conditions proves a difficult task for clinicians; however, routine state newborn screening panels now include many IEMs. Three in particular-pyridoxine-dependent epilepsy, maple syrup urine disease, and Zellweger spectrum disorders-are highly associated with neonatal epilepsy and neurocognitive injury yet are often misdiagnosed. As research surrounding biomarkers for these conditions is emerging and gene sequencing technologies are advancing, clinicians are beginning to better establish early identification strategies for these diseases. In this literature review, the authors aim to present clinicians with an innovative clinical guide highlighting IEMs associated with neonatal-onset seizures, with the goal of promoting quality care and safety.
Assuntos
Convulsões , Humanos , Recém-Nascido , Convulsões/diagnóstico , Triagem Neonatal/métodos , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/complicações , Diagnóstico Diferencial , Doença da Urina de Xarope de Bordo/diagnóstico , Doença da Urina de Xarope de Bordo/complicaçõesRESUMO
Chylothorax, a lymphatic flow disorder characterized by an abnormal circulation of lymph fluid into the pleural cavity, is the most common cause of pleural effusions during the neonatal period. This condition affects 1/15,000 neonates every year. Affected neonates often manifest with respiratory distress, electrolyte imbalances, sepsis, and even immunodeficiencies. Mortality risk is highest among neonates undergoing cardiac surgery as well as those with associated hydrops fetalis. Conservative treatment options include bowel rest with administration of parenteral nutrition, followed with medium-chain triglyceride enteral feedings, and octreotide therapy. Severe or persistent cases require surgical intervention. This can involve a unilateral or bilateral pleurectomy and thoracic duct ligation, with or without pleurodesis. Early identification and successful treatment of this condition is contingent upon awareness of the most current evidence and a timely cross-disciplinary approach to care.
Assuntos
Quilotórax , Derrame Pleural , Quilotórax/diagnóstico , Quilotórax/etiologia , Quilotórax/terapia , Humanos , Hidropisia Fetal , Recém-Nascido , Ligadura , PleurodeseRESUMO
Arnold-Chiari malformation (ACM), a defect that involves downward displacement of the hindbrain and herniation of the cerebellar vermis, tonsils, pons, medulla, and fourth ventricle through the foramen magnum, is the most complex of the 4 types of Chiari malformations. Unique to the other types of Chiari malformations, approximately 95 percent of infants with ACM also present with an associated myelomeningocele (MMC), the most severe form of spina bifida. Among affected infants, those with symptomatic comorbidities incur a significantly higher morbidity and mortality risk. Prompt identification and diagnosis of ACM, as well as evidence-based postnatal and postsurgical nursing and medical care, is critical. Early surgical intervention can repair an existing MMC and restore proper cerebrospinal fluid circulation, which can dramatically improve patient outcomes and quality of life, and reduce disease and health care burden.
Assuntos
Malformação de Arnold-Chiari , Hidrocefalia , Meningomielocele , Malformação de Arnold-Chiari/diagnóstico , Malformação de Arnold-Chiari/cirurgia , Humanos , Lactente , Qualidade de VidaRESUMO
Relative adrenal insufficiency (AI) is a disease process commonly associated with preterm birth and critical illness. Further, the incidence of AI is inversely proportional to gestational age. The incidence of AI is likely underreported; however, it is reported to occur in 150-280/1,000,000 live births worldwide. Functional development of the adrenal gland does not occur until after 30 weeks of gestation; however, advances made in neonatal care increase the survivability of infants born well before this period. Among infants with AI, the adrenal gland is transiently incapable of secreting physiologic levels of cortisol in response to stressors. Common and nonspecific signs include hypotension, poor perfusion, and dysregulation of fluid, electrolytes, and euglycemia. Recognition, diagnosis, and steroid therapy is critical, as inappropriately managed AI can lead to an adrenal crisis, shock, and death. Understanding the presentation and common risk factors for developing relative AI is crucial for quick diagnosis and timely management to prevent morbidity and mortality in this vulnerable population.
Assuntos
Insuficiência Adrenal , Nascimento Prematuro , Glândulas Suprarrenais , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/epidemiologia , Insuficiência Adrenal/etiologia , Idade Gestacional , Humanos , Hidrocortisona , Lactente , Recém-NascidoRESUMO
Congenital diaphragmatic hernia (CDH) is a developmental defect in the diaphragm that allows abdominal viscera to herniate into the thoracic cavity. Pulmonary hypoplasia and pulmonary hypertension are consequences of this disease process. The incidence is approximately 2.4-4.1/10,000 births, and survival rate is estimated at 70-90 percent. To avoid potentially devastating delays in care, it is crucial that neonatal nurses and care providers in both tertiary and nontertiary care centers be familiar with the pathogenesis of CDH and the standard of care for initial stabilization of the neonate. Novel fetal and postnatal surgical repair techniques are also described here.
Assuntos
Hérnias Diafragmáticas Congênitas , Feminino , Feto , Hérnias Diafragmáticas Congênitas/diagnóstico , Hérnias Diafragmáticas Congênitas/terapia , Humanos , Recém-Nascido , Gravidez , Cuidado Pré-NatalRESUMO
Congenital hypothyroidism (CH) is a disorder of thyroid hormone deficiency which develops secondary to incomplete thyroid development or inadequate thyroid hormone production. State-mandated newborn screening throughout the United States has increased the detection rate of CH, allowing for early intervention. Although the overall mortality rate of CH is low, delayed or omitted treatment can lead to devastating neurocognitive outcomes. As such, CH is regarded as the leading cause of preventable intellectual disability in children. Early identification, facilitated by astute neonatal nursing and medical care, is contingent upon an active working knowledge of the disease process and awareness of the limitations of the newborn screen.
Assuntos
Hipotireoidismo Congênito , Deficiência Intelectual , Criança , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/terapia , Humanos , Recém-Nascido , Triagem Neonatal , Estados Unidos/epidemiologiaRESUMO
Pulmonary hemorrhage (PH) is a pathology associated with significant morbidity and mortality, particularly among preterm infants in the NICU. The diagnosis is made when hemorrhagic secretions are aspirated from the trachea concurrent with respiratory decompensation that necessitates intubation or escalated support. The implementation of mechanical ventilation and widespread exogenous surfactant administration have significantly reduced respiratory morbidities. However, when PH develops, death remains the most common outcome. Treatment for PH remains primarily supportive; thus, a thorough understanding of underlying disease processes, manifestations, diagnostic testing, and current evidence is vital to enable early identification and proactive management to reduce morbidity and mortality.
Assuntos
Pneumopatias , Surfactantes Pulmonares , Síndrome do Desconforto Respiratório do Recém-Nascido , Hemorragia/diagnóstico , Hemorragia/etiologia , Hemorragia/terapia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Pneumopatias/diagnóstico , Pneumopatias/terapia , Surfactantes Pulmonares/uso terapêutico , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológicoRESUMO
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy worldwide, is an insufficient amount of the G6PD enzyme, which is vital to the protection of the erythrocyte. Deficient enzyme levels lead to oxidative damage, hemolysis, and resultant severe hyperbilirubinemia. If not promptly recognized and treated, G6PD deficiency can potentially lead to bilirubin-induced neurologic dysfunction, acute bilirubin encephalopathy, and kernicterus. Glucose-6-phosphate dehydrogenase deficiency is one of the three most common causes for pathologic hyperbilirubinemia. A change in migration patterns and intercultural marriages have created an increased incidence of G6PD deficiency in the United States. Currently, there is no universally mandated metabolic screening or clinical risk assessment tool for G6PD deficiency in the United States. Mandatory universal screening for G6PD deficiency, which includes surveillance and hospital-based risk assessment tools, can identify the at-risk infant and foster early identification, diagnosis, and treatment to eliminate neurotoxicity.
Assuntos
Diagnóstico Precoce , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/fisiopatologia , Deficiência de Glucosefosfato Desidrogenase/terapia , Programas de Rastreamento/normas , Enfermagem Neonatal/normas , Guias de Prática Clínica como Assunto , Feminino , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Recém-Nascido , Masculino , Medição de Risco , Estados Unidos/epidemiologiaRESUMO
Intellectual curiosity is the gateway to an innovative mindset. Success is contingent upon what we do with that knowledge to solve problems in our everyday professional practices. However, merely 13 to 25 percent of college graduates enter the workforce with the desirable innovative mindset. Rather, a culture of mediocrity persists within facets of academia as well as the professional workforce. Given that the youngest ranks of nurses emerge from institutes of higher learning and are the future of the nursing workforce, it is appropriate for academia to begin the charge toward change. This article presents a pragmatic discussion of key antagonists to the adoption of a culture of innovation, namely factors that comprise a culture of mediocrity. Strategies that promote creative problem-solving and a shift toward a collaborative culture of innovation will be presented for nurses practicing within academia and the health care system.
Assuntos
Currículo , Bacharelado em Enfermagem/organização & administração , Recursos Humanos de Enfermagem Hospitalar/psicologia , Inovação Organizacional , Estudantes de Enfermagem/psicologia , Local de Trabalho/psicologia , Adulto , Feminino , Humanos , Masculino , Adulto JovemRESUMO
Down syndrome (DS) is a well-known genetic disorder that affects 700-1,000 infants per year. One particular comorbidity of DS is transient myeloproliferative disorder (TMD), a disease characterized by leukocytosis with elevated blast counts. Approximately 10 percent of DS infants develop TMD, which usually manifests during the first week of life and can lead to an extended hospitalization in a NICU. In addition to hallmark hematologic findings, other manifestations include jaundice, conjugated hyperbilirubinemia, hepatomegaly, and pericardial or pleural effusions. TMD generally resolves spontaneously in the first three months of life with the provision of timely medical management; however, survivors are at increased risk of developing acute myeloid leukemia (AML). Neonatal nurses need to have knowledge of this disorder to facilitate screening of DS infants and optimize family education and coordination of care.
Assuntos
Síndrome de Down/diagnóstico , Síndrome de Down/enfermagem , Reação Leucemoide/diagnóstico , Reação Leucemoide/enfermagem , Enfermagem Neonatal/educação , Enfermagem Neonatal/métodos , Enfermeiros Neonatologistas/educação , Guias de Prática Clínica como Assunto , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-IdadeRESUMO
Neuroblastoma represents approximately 6 to 10 percent of childhood cancers, yet is one of the most common solid tumors observed in neonates; approximately 700 cases are reported in the United States each year. Neuroblastoma occurs secondary to oncogene mutations that cause abnormal proliferation of neural crest cells and tumor formation anywhere along the spinal cord. Visible manifestations include a blueberry rash and subcutaneous skin nodules. Common histologic findings include multifocal, small, round, blue cell tumors. Cytogenetics testing differentiates aggressive versus nonaggressive forms of neuroblastoma. Treatment ranges from supportive care to surgery and chemotherapy; targeted molecular therapies and immunotherapy offer opportunity to individualize treatment. Morbidity and mortality are contingent upon age at diagnosis and genetic abnormalities. Neonatal clinicians must establish and maintain active knowledge of the current science pertaining to this neoplasm to assist in early identification and timely initiation of medical management. This article presents a case report and comprehensive discussion of the state of the science on metastatic familial (congenital) neuroblastoma.
Assuntos
Neoplasias Abdominais/diagnóstico , Neuroblastoma/diagnóstico , Neoplasias Abdominais/congênito , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Neuroblastoma/congênitoRESUMO
Congenital central hypoventilation syndrome (CCHS) is a rare and sporadic neurocristopathy characterized by alveolar hypoventilation and autonomic nervous system dysfunction. CCHS manifests quickly after birth, initially as respiratory distress. Mortality risk is estimated at 38 percent, with a median age of death of three months of age. A timely and accurate diagnosis is critical. Genetic testing for PHOX2B gene mutations is necessary to confirm the diagnosis; however, laboratory turnaround time often imposes an additional 7-14-day waiting period on an often anxious family. Neonatal clinicians should recognize that families require disease-specific education, emotional support, and time to rehearse daily caregiving in preparation for discharge. Therefore, this article presents the key clinical, pathophysiologic, and diagnostic factors, as well as a discussion of discharge needs. A case report of an infant, born to parents with no known history of CCHS, is included as a case-based learning opportunity for readers.
Assuntos
Hipoventilação/congênito , Enfermagem Neonatal/educação , Enfermagem Neonatal/normas , Recursos Humanos de Enfermagem Hospitalar/educação , Guias de Prática Clínica como Assunto , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/enfermagem , Apneia do Sono Tipo Central/fisiopatologia , Adulto , Feminino , Humanos , Hipoventilação/diagnóstico , Hipoventilação/genética , Hipoventilação/enfermagem , Hipoventilação/fisiopatologia , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Apneia do Sono Tipo Central/genéticaRESUMO
BACKGROUND: Syphilis is caused by the spirochete bacterium Treponema pallidum. Syphilis left untreated, or inadequately treated during pregnancy, can result in congenital syphilis (CS). Congenital syphilis can lead to severe sequelae or fetal, neonatal, or infant death. PURPOSE: To discuss the epidemiological trends, pathophysiology, diagnosis, and management of CS; the implications of CS upon the infant; as well as the importance of the nurse's role in the prompt identification of CS and the timely interventions needed to minimize sequelae. METHODS: A literature search was completed using ProQuest, CINAHL, Google Scholar, and PubMed. Articles published within the past 10 years were included. FINDINGS: Epidemiological trends of CS in the United States indicate that maternal syphilis infection and CS are on the rise. Risk factors include ethnicity, socioeconomic status, access to prenatal care, and sexual behaviors, as well as compliance with prenatal syphilis screening by prenatal providers. Risks of CS to the developing fetus begin at approximately 14 weeks. Timely treatment is necessary to minimize or eliminate mortality and morbidity. IMPLICATIONS FOR PRACTICE: Evidence-based, interprofessional strategies, which promote a collaborative perinatal/neonatal preventative approach to care of the pregnant female, are indicated to reverse the increasing incidence of CS within the United States. Strategies prioritizing early identification and treatment of at-risk neonates are necessary to reduce/eliminate the devastating long-term consequences of CS upon this vulnerable population. IMPLICATIONS FOR RESEARCH: The paucity of research, which focuses on CS, is most likely due to ethical concerns related to infants as research participants and provides an opportunity for future research. Future research could focus on factors that focus on maternal-fetal/maternal-child transmission of CS.
Assuntos
Papel do Profissional de Enfermagem , Complicações Infecciosas na Gravidez/epidemiologia , Sífilis Congênita/epidemiologia , Antibacterianos/uso terapêutico , Diagnóstico Precoce , Intervenção Médica Precoce , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Penicilina G/uso terapêutico , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/tratamento farmacológico , Diagnóstico Pré-Natal , Sífilis/diagnóstico , Sífilis/tratamento farmacológico , Sífilis/epidemiologia , Sorodiagnóstico da Sífilis , Sífilis Congênita/diagnóstico , Sífilis Congênita/tratamento farmacológico , Estados Unidos/epidemiologiaRESUMO
BACKGROUND: Diuretics are among the most frequently prescribed medications in the neonatal intensive care unit (NICU), despite minimal data regarding the safety and efficacy of their use in the neonatal population. Off-label diuretic therapy is used in preterm and full-term infants to both optimize kidney function and improve respiratory status. PURPOSE: This article examines the literature specific to the impact of diuretic therapy in the NICU and compares the benefits versus risks of utilization as they pertain to the prevention and treatment of renal and pulmonary dysfunction in this population. METHODS/SEARCH STRATEGY: A comprehensive literature search of online databases was performed, utilizing: CINAHL via EBSCO, PubMed, and ProQuest. Full-text, peer-reviewed, clinical trials, and review articles published in the English language between 2005 and 2015 were searched. FINDINGS/RESULTS: Diuretics rank as the seventh most frequently prescribed medication in the NICU. More than 8% of all NICU patients and 37% of infants born at less than 32 gestational weeks and weighing less than 1500 g are exposed to diuretics. Benefits include lung fluid resorption acceleration, improved urine output, fluid retention counteraction, and augmentation of physiologic weight loss. IMPLICATIONS FOR PRACTICE: Diuretics are currently utilized in the NICU at an alarming rate, without adequate clinical trials regarding their safety and efficacy of use. IMPLICATIONS FOR RESEARCH: Updated studies are needed regarding short- and long-term outcomes of diuretic use, as well as overall general outcome data regarding the impact and evaluation of diuretic usage in the NICU population.
Assuntos
Injúria Renal Aguda/tratamento farmacológico , Displasia Broncopulmonar/tratamento farmacológico , Diuréticos/uso terapêutico , Medicina Baseada em Evidências , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Uso Off-LabelRESUMO
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern. RCDP type 1 accounts for greater than 90% of all aggregate cases. Differentiating between the 3 subtypes of RCDP, as well as disorders characterized by similar punctate cartilaginous changes, is essential to guide an appropriate postnatal plan of care. Management strategies are focused toward associated clinical manifestations and require an interdisciplinary approach including ophthalmology, cardiovascular, endocrine, physical and occupational therapy, and neurology. Purposeful and frequent collaboration among all members of the neonatal/pediatric interdisciplinary team is necessary to optimize outcomes for the neonate and the family unit. The purpose of this article is to anticipate the needs of both patients with known and prenatal diagnosis of RCDP type 1 and patients with suspected clinical diagnosis of RCDP type 1 in the immediate neonatal period and to guide the appropriate plan of care. This article presents a case report of type I RCDP, as well as describes genetic influences, symptoms, diagnosis, management, and prognosis.