A Case Report of Donnai-Barrow Syndrome.

BACKGROUND: A genetic disorder should be considered when an infant presents with multiple congenital anomalies. Because of the acute presentation of an infant with multiple life-threatening defects, a genetic diagnosis of a rare disorder took weeks to delineate. CLINICAL FINDINGS: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallot, cleft lip, low-set ears, and hypertelorism. PRIMARY DIAGNOSIS: Donnai-Barrow syndrome was the final diagnosis confirmed by a defect observed on the LRP2 (2q31.1) gene using sequence analysis. This is a rare disorder that presents with a variety of phenotypic features in infants. INTERVENTIONS: Initial neonatal resuscitation in the delivery room included intubation, positive pressure ventilation, and oxygen supplementation. Extracorporeal membrane oxygenation therapy was initiated from day of life 3 to 15. Initial surgery included correction of the congenital diaphragmatic hernia, and further surgical procedures included tracheostomy, gastrostomy tube, circumcision, ventricular septal defect repair, and cleft lip repair. Physical, occupational, and speech therapies were also initiated. OUTCOMES: The infant was transported to a pediatric rehabilitation facility at 6 months of life for further management of his chronic lung disease requiring tracheostomy with ventilator dependence. PRACTICE RECOMMENDATIONS: Early recognition and diagnosis of genetic syndromes can improve family education and guide treatment interventions. An underlying syndrome should be suspected when an infant presents with multiple congenital defects. Infants with Donnai-Barrow syndrome should have thorough cardiac, neurologic, ophthalmologic, audiologic, and renal examinations due to the gene mutation effects on those systems.

Pharmacologic Management of Neonatal Abstinence Syndrome Using a Protocol.

BACKGROUND: The opioid epidemic in the United States has reached unprecedented proportions with far-reaching impacts on the most vulnerable population. The number of neonates born addicted to opioids has grown exponentially over the last several decades, leading to increased neonatal intensive care unit admissions and rising healthcare costs. Recent studies have yielded mixed results regarding which medication is most effective at relieving the symptoms of opioid withdrawal and reducing the weaning timeframe for babies with neonatal abstinence syndrome (NAS). PURPOSE: To explore and compare the effectiveness of morphine versus methadone in the treatment for NAS using a standardized protocol. METHOD: A literature search of PubMed and CINAHL was performed. The search yielded 10 quantitative studies that were analyzed for potential practice changes. CONCLUSION: Based on current literature, following a standardized, stringent weaning protocol is more beneficial than the pharmacologic agent used. Studies reveal shorter weaning times and hospital stays in almost every group that followed rigid guidelines. IMPLICATION FOR RESEARCH: Although current studies are promising for the desired outcome, more research is needed to develop appropriate protocol-based weaning regimens for management of NAS. IMPLICATION FOR PRACTICE: As the occurrence of NAS continues to rise, its management must vigorously meet the challenges of the diagnosis. Institutions should reevaluate their current protocols based on reassuring data showing that stringent guidelines using morphine or methadone can improve clinical outcomes, reduce hospital length, and lower healthcare costs.

The Best Interests of Infants and Families During Palliative Care at the End of Life: A Review of the Literature.

BACKGROUND: Palliative care is an integral element of care provision in neonatal intensive care units (NICUs). Healthcare providers working in NICUs are likely to provide palliative care at some point in their career. PURPOSE: This article examines what neonatal palliative care entails, how parents perceive healthcare providers' actions, what they potentially need at the end of their infant's life, and what bereavement interventions are most supportive for parents. SEARCH STRATEGY: We conducted a search of full-text articles published in English in PubMed and CINAHL using the following key words: "NICU bereavement care," "end-of-life care," "infant loss," and "palliative care." FINDINGS: Healthcare providers should consider alleviation of the infant's pain and suffering when discussing whether to provide or continue aggressive medical interventions. The timing of these discussions is important. Parents appear to be most comforted by compassionate, caring healthcare providers who show competence and knowledge in the provision of medical/nursing and palliative care. IMPLICATIONS FOR PRACTICE: Healthcare providers working in NICUs require specific training in bereavement/palliative care for infants. Families facing the death of their infant must receive support from qualified providers both during and after that death. Furthermore, the infant's quality of life must be considered when discussing withholding or withdrawing care. IMPLICATIONS FOR RESEARCH: There is a need for further research investigating the specific types of training required by healthcare providers in NICU settings who are providing bereavement/palliative care to neonates, in order to best support the families' needs in these situations.

Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V.

We explore the outcome of a fetus with a posterior fossa abnormality thought to be a Dandy-Walker malformation based on prenatal ultrasound imaging. The infant was later diagnosed by magnetic resonance imaging (MRI) as having an isolated cisterna magna. When assessing brain abnormalities, there is increased accuracy of prenatal MRI versus prenatal ultrasound. Accurate diagnosis of an infant is paramount so that an inheritance pattern, risk of recurrence, involvement of other systems, and a prognosis can be determined. Communicating with the family and supporting them with the correct information is then enhanced. It should be standard protocol to obtain a fetal MRI if an abnormal prenatal ultrasound of the brain is detected. Further research is needed to assess the accuracy of using MRI versus ultrasonography prenatally to diagnose posterior brain abnormalities.

Disseminated Intravascular Coagulation in the Neonate.

Disseminated intravascular coagulation (DIC) is a serious secondary disease that alters the events in the clotting cascade. DIC leads to microclots in the peripheral vasculature. The uncontrolled formation of these clots consumes the body's clotting factors, which precipitates bleeding. Neonates, defined as newborns zero to one month old, are born with slightly altered hemostasis, also known as developmental coagulopathy. This coagulopathy puts neonates at a greater risk of developing DIC, specifically when additional body systems have been compromised by a primary disease. Because of the serious nature of this disease and its precipitating factors, advanced practitioners should study the nuances of DIC to provide accurate diagnosis and proper treatment. The aim of this article is to discuss the pathophysiology behind DIC along with etiologies, diagnosis, treatment, and prognosis in neonates, along with gaps in current research.

Transitional Objects to Faciliate Grieving Following Perinatal Loss.

BACKGROUND: Parents who experience a perinatal loss often leave the hospital with empty arms and no tangible mementos to validate the parenting experience. Opportunities to create parenting experiences with transitional objects exist following the infant's death. PURPOSE: This article offers suggestions for staff in units where infant loss is possible to best assist parents in optimal grieving through the offering of transitional bereavement objects. METHODS/SEARCH STRATEGY: CINAHL Complete, MEDLINE, and the Cochrane Database of Systematic Reviews were searched using the following key words-perinatal bereavement, grief, perinatal loss, transitional objects, bereavement photography-and the search was limited to 5 years and the English language. FINDINGS/RESULTS: Recommendations exist and are well supported by leading neonatal and perinatal nursing and medicine organizations for the use of transitional objects to facilitate healthy grieving when parents experience perinatal loss. Transitional objects are mementos that validate the meaning of parenthood-even if the physical act of parenting was brief. Nursing and medical staff have significant roles in guiding parents to a healthy state of bereavement and ultimately managing long-term grief. IMPLICATIONS FOR PRACTICE: Transitional objects can be provided by staff that are low-cost or free, such as taking photographs for parents, or they can involve purchased products from perinatal bereavement programs. In the latter case, funding needs are a consideration for budgeting decisions. IMPLICATIONS FOR RESEARCH: Immediately following a loss, parents experience a brief sense of healing after receiving mementos of their infant. However, further research is needed to assess long-term effects of receiving transitional objects following perinatal loss.

The Use of Whole Body Cooling in the Treatment of Hypoxic-Ischemic Encephalopathy.

Hypoxic-ischemic encephalopathy (HIE) is a major cause of morbidity and mortality in neonates. Hypoxic-ischemic encephalopathy occurs as a result of a perinatal hypoxic-ischemic event just prior to or during delivery. Therapeutic hypothermia using whole body cooling is the current treatment of choice to reduce brain injury and improve long-term neurodevelopmental outcomes for neonates with HIE. All English language articles published since 2005 in PubMed and the Cumulative Index to Nursing and Allied Health Literature (CINAHL) were analyzed for existing evidence-based methods for whole body cooling. Whole body cooling is effective in the treatment of HIE in term and near-term neonates. Further research is needed to investigate the use of adjunctive therapies in conjunction with whole body cooling for improved neuroprotection.

Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant.

BACKGROUND: Nonimmune hydrops fetalis secondary to congenital chylothorax (CC) is a rare disease process associated with high morbidity and mortality related to abnormal formation of the lymphatic system and disrupted management of fetal fluid. Hydrops fetalis is typically diagnosed prenatally by the presence of pleural effusions or other fluid collection on ultrasonography. Congenital chylothorax is diagnosed when the analysis of pleural fluid is deemed chylous. Neonatal presentation is often respiratory distress secondary to lung compression or pulmonary hypoplasia. Management ranges from supportive medical management such as high-frequency ventilation, chest drainage, and nutrition support, to controversial therapies such as octreotide administration and chemical pleurodesis, to surgical interventions such as thoracic duct ligation and mechanical pleurodesis. PURPOSE: To discuss a range of management techniques and supportive therapies for hydrops fetalis and CC. METHODS/SEARCH STRATEGY: PubMed and CINAHL were searched using the terms "hydrops fetalis," "congenital," "chylothorax," "neonate," and "preterm." Twenty-two English language articles published within the last five years were identified and included to determine the current body of evidence surrounding treatment options for hydrops fetalis and CC. CASE FINDINGS: In this case, a preterm male infant presented at birth with prenatally known bilateral pleural effusions and ascites, later diagnosed as nonimmune hydrops fetalis secondary to CC. A combination of supportive medical management, octreotide therapy, and surgical intervention effectively resolved this infant's chylothorax and hydrops. IMPLICATIONS FOR PRACTICE: Antenatal intervention may be appropriate for some infants, otherwise supportive medical management including respiratory and nutrition therapies should be prioritized for infants born with hydrops fetalis and CC. IMPLICATIONS FOR RESEARCH: Nonimmune hydrops fetalis secondary to CC presents a complex challenge for neonatal providers, as no definitive treatment strategy currently exists. Further research is needed to determine the safety and efficacy of controversial therapies including octreotide.

Potential NICU Environmental Influences on the Neonate's Microbiome: A Systematic Review.

OBJECTIVE: To identify how the neonatal intensive care unit (NICU) environment potentially influences the microbiome high-risk term and preterm infants. DATA SOURCES: Electronic databases utilized to identify studies published in English included PubMed, Google Scholar, Cumulative Index for Nursing and Allied Health Literature, and BioMedSearcher. Date of publication did not limit inclusion in the review. STUDY SELECTION: Two hundred fifty articles were assessed for relevance to the research question through title and abstract review. Further screening resulted in full review of 60 articles. An in-depth review of all 60 articles resulted in 39 articles that met inclusion criteria. Twenty-eight articles were eliminated on the basis of the type of study and subject of interest. DATA EXTRACTION: Studies were reviewed for information related to environmental factors that influence microbial colonization of the neonatal microbiome. Environment was later defined as the physical environment of the NICU and nursery caregiving activities. DATA SYNTHESIS: Studies were characterized into factors that impacted the infant's microbiome­parental skin, feeding type, environmental surfaces and caregiving equipment, health care provider skin, and antibiotic use. CONCLUSIONS: Literature revealed that various aspects of living within the NICU environment do influence the microbiome of infants. Caregivers can implement strategies to prevent environment-associated nosocomial infection in the NICU such as implementing infection control measures, encouraging use of breast milk, and decreasing the empirical use of antibiotics.

Mosaic trisomy 9 hematopoietic chimera.

A 1.57-kg infant presented at a major medical center in the southeastern United States at 32 weeks of gestation with growth restriction and no major anomalies after an uncomplicated pregnancy. At 1 month of life, the infant was found to be chimeric for blood types O and A. Genetic testing revealed mosaic trisomy 9 as the cause for the 2 distinct blood types. Without phenotypic presentation of trisomy 9, the infant's genetic diagnosis was not detected until an issue arose. Genetic diagnosis and treatment and future considerations are discussed in this article. Full-text English articles from CINAHL and PubMed were analyzed for assistance in understanding the infant's condition. Book chapters, review articles, and meta-analyses were also reviewed. Implications of this case study indicate that phenotypically normal presenting infants may still have underlying issues that should be investigated genetically when they arise. This article cannot be generalized to the population because of its specific situation, but the underlying concept can be applied to any case.

Use of benzodiazepines as anxiolytics in neonates: are we there yet?

Few controlled trials exist to demonstrate the efficacy and the risks of pharmacologic agents used in treating pediatric, and more specifically neonatal patients. It is not different for the central nervous system altering class of drugs, benzodiazepines (BZDs). Little information is known about the long-term effects of BZDs use in neonates as anxiolytics and sedatives causing trepidation with their use in the clinical setting. Insufficient data related to the use of BZDs result in a lack of clear recommendations to guide caregivers at the bedside on the safest administration patterns to avoid long-term adverse effects. However, caring for ill neonates, in particular surgical patients and infants requiring prolonged hospitalizations, necessitates the use of these agents. A literature search within the electronic database, PubMed, of English language, full-text articles published between 2007 and 2012 was undertaken to determine the state of the science regarding the use of BZDs in neonates. These medications cause unwanted effects in neonates with immature hepatic function (primary site of metabolism) and during a developmental period of tremendous neuroplasticity. It benefits caregivers to recognize the need for improved monitoring of stress experienced by infants in the NICU and understand the impact of prolonged agitation and subacute pain on infant development.

Sturge-Weber syndrome: a case study.

Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral vascular abnormalities, and potential eye involvement. The incidence of SWS is approximately 1 in 20,000 to 50,000 infants, and therefore all clinical presentations are important to discuss. This article describes a case presentation of SWS and then discusses the etiology, pathophysiology, management, diagnosis, and prognosis of SWS.

Fungal prophylaxis in neonates: a review article.

Fungemia is a serious problem within neonatal intensive care units around the world. Premature infants are at high risk for this complication, which is often fatal. Prophylaxis for invasive fungal infection has been practiced worldwide in different settings and with various patient groups. Both oral and intravenous drugs have been used with some success. In the population of preterm infants, oral nystatin, intravenous fluconazole, and intravenous amphotericin B have all been cited as possible drugs for prophylactic use. Intravenous fluconazole has emerged as the best choice for chemoprophylaxis in premature infants.

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. Children with JS present with variable degrees of respiratory distress, frequently lethal in the neonatal period. Other associated complications include renal, hepatic, gastrointestinal, and retinal dysfunction. Management focuses on stabilization and support of respiratory function. Treatment may be palliative in nature or corrective. In recent years, the advance in surgical treatment of the thoracic hypoplasia in JS offers hope to those families with a child suffering from the syndrome. Even with increased research into treatment of this disorder, prognosis is usually poor. Comorbidities associated with JS lead to serious organ dysfunction in later years. Families who have a child with JS need genetic counseling and education focusing on the seriousness of the disorder, the risks and benefits of treatment, and the lifelong needs of those with JS.

Mental health issues of women deployed to Iraq and Afghanistan.

The number of women serving in the military and deployed to active-duty is unprecedented in the history of the United States. When women became a permanent sector of the U.S. Armed Services in 1948, their involvement was restricted to comprise only 2% of the military population; today women constitute approximately 14.5% of the 1.4 million active component and 18% of the 850,000 reserve component. Yet, little attention has been paid to the mental health needs of women military members. This review article highlights the history of women in the military and then focuses on the impact of combat exposure and injuries, military sexual trauma, alcohol use, and family separations which are associated with PTSD, depression, suicide, difficulty with reintegration, and homelessness.

Sixty golden minutes.

The golden hour concept started in the trauma setting but is becoming more familiar in the neonatal intensive care unit (NICU). For a premature baby, the first hour of life can make the difference between a good outcome, a poor outcome, and death. The golden hour is 60 minutes of team-oriented and task-driven protocols. The focus is on resuscitation, thermoregulation, early administration of antibiotics for suspected sepsis, early intravenous parenteral nutrition, hypoglycemia management, and completed admission within one hour of life. To a premature baby, the first 60 minutes of life are golden and can last a lifetime.

Heart for bonding: a new protocol of care for hypoplastic left heart syndrome.

There are significant challenges involved in the perinatal and postnatal care of an infant with hypoplastic left heart syndrome (HLHS) and the infant's family. In the blink of an eye, the perfect child is lost, and a fragile infant is about to join the family. This case study and discussion is an overview of HLHS , a family's desire to make the birth of their infant normal, and how that desire initiated a change in philosophy and practice in our neonatal intensive care unit.

Efficacy of inhaled nitric oxide in preterm neonates.

Over the past 20 years, the recognition of nitric oxide (NO) as an endothelial-derived vasodilator has led to remarkable advances in vascular biology awareness. The signaling molecule NO, produced by NO synthase, is a molecule that is widespread in the body and important in multiple organ systems. Soon after its discovery, investigators found NO to be a potent pulmonary vasodilator in term neonates. Nitric oxide has come to perform a key function in neonatal therapy and management since its identification, especially in those with respiratory failure. It is conventionally used in the neonatal population for the treatment of persistent pulmonary hypertension, resulting in hypoxic respiratory failure of the term or near-term newborn. Inhaled NO has been successful in acutely improving oxygenation and in reducing the need for extracorporeal membrane oxygenation treatment. In recent years, the efficacy of inhaled NO for the prevention of pulmonary disability as well as its neuroprotective capabilities in preterm infants has been explored.

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.

Congenital central hypoventilation syndrome (CCHS) is a rare syndrome of dysfunction of the autonomic nervous system characterized by a decreased response to hypercarbia. It is a disorder in which affected individuals fail to breathe during sleep despite progressive hypercapnia and hypoxia. Infants simply fall asleep and quit breathing. They are found by their parents or caregivers blue and lifeless. CCHS is an autosomal dominant disease. It has been linked with tumors of neural crest origin, segmental aganglionosis of the colon, and diffuse autonomic dysregulation but can occur alone. Discovery of the genetic link between the paired-like homeobox 2B (PHOX2B) genetic mutations and CCHS represents a breakthrough in the diagnosis of CCHS, association of mutated alleles with disease severity, and clues to the pathophysiology responsible for the disorder. Early genetic screening and intervention can provide the families of these infants with hope for achieving a normal life.

Neonatal tuberculosis: neonatal intensive care unit considerations in the United States.

According to the World Health Organization, more than 2 billion people, equal to one third of the world's population, are infected with Mycobacterium tuberculosis (TB) bacilli, the microbes that cause TB. In addition, over the past decade, the incidence of postnatal TB in infants has shown an escalating trend in response to the global increase in TB. In providing the best possible care for infants in newborn nurseries and NICU, providers must recognize the trends of TB and multidrug resistant TB in infants globally and consider the possible effects on health care in the United States. The potential risk factors, clinical manifestations, diagnostic strategies, and management plans, specific to the care of infants in the neonatal intensive care unit, is vastly important in maintaining a high index of suspicion for neonatal TB.