http://neoreviews.aappublications.org Pediatrics RSS feed -- recent issues 1526-9906 NeoReviews http://neoreviews.aappublications.org/icons/banner/title.gif http://neoreviews.aappublications.org http://neoreviews.aappublications.org/cgi/content/full/9/7/e279?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e279 American Academy of Pediatrics 7 9 e281 2008-07-01 e279 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e282?rss=1 Because genetic conditions can alter the health of neonates, it is important for neonatologists to become familiar with the indications for testing and major issues in the interpretation of results. The two primary molecular cytogenetic techniques are fluorescence in situ hybridization and array comparative genomic hybridization, which allow detection of deletions, duplications, and rearrangements of small regions within the chromosome. Direct mutation analysis of DNA can be targeted to a specific variant known to be associated with disease. Epigenetic factors can affect gene expression without altering the genotype. For example, genomic imprinting (differential expression of a gene) causes several genetic disorders. Most molecular genetic testing performed in the newborn nursery is for purposes of diagnosis. Important differences in analytic validity, clinical validity, and clinical utility distinguish genetic testing from more traditional laboratory testing, and the implications of these differences must be considered when ordering such tests.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e282 American Academy of Pediatrics 7 9 e290 2008-07-01 e282 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e291?rss=1 Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant's prognosis. Initial screening tests can provide a general overview of the infant's metabolic status and suggest potential IEMs. Among the clinical findings seen in many IEMs are encephalopathy, hypoglycemia, jaundice and liver disease, cardiac arrhythmias, cardiomyopathy, hypotonia, dysmorphic features, and nonimmune hydrops. Confirmatory testing (enzyme analysis or molecular DNA testing) are required to make the diagnosis. Clinicians should be aware of specific requirements for such testing to obtain the desired results.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e291 American Academy of Pediatrics 7 9 e298 2008-07-01 e291 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e299?rss=1 Neonatologists often care for newborns who have multiple congenital anomalies. The specific diagnosis has implications for the infant's clinical management. In this article, we examine the neonatal presentations of CHARGE syndrome and VATER/VACTERL association. Once the features of these two entities are recognized clinically, the appropriate diagnostic evaluations can be initiated.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e299 American Academy of Pediatrics 7 9 e304 2008-07-01 e299 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e305?rss=1 Autoimmune thyroid disease is common in pregnancy. Graves disease is present in about 0.2% of pregnancies, and clinical hyperthyroidism occurs in approximately 1% of neonates born to women who have Graves disease. Antibodies to the thyroid-stimulating hormone receptor (TSH-R) (stimulating or blocking) freely cross the placenta and can act in the fetal thyroid gland during the second half of pregnancy. A few cases of fetal hyperthyroidism or hypothyroidism related to maternal TSH-R antibodies (TRAbs) have been reported. Neonatal hyperthyroidism or thyrotoxicosis is usually apparent by 10 days after birth. Such states should be considered emergencies and treated promptly to prevent damage in the newborn.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e305 American Academy of Pediatrics 7 9 e309 2008-07-01 e305 Articles http://neoreviews.aappublications.org/cgi/content/full/9/7/e310?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e310 American Academy of Pediatrics 7 9 e312 2008-07-01 e310 Articles http://neoreviews.aappublications.org/cgi/content/short/9/7/e313?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e313 American Academy of Pediatrics 7 9 e313 2008-07-01 e313 Visual Diagnosis http://neoreviews.aappublications.org/cgi/content/abstract/9/6/e233?rss=1 Kosovo declared independence on February 17, 2008. The political and medical postconflict environment in Kosovo before independence was the setting for a United States Agency for International Development (USAID) program involving collaboration among public and private United States partners developed for leveraging resources to increase effectiveness. The formal 18-month effort focused on improved perinatal outcomes and was part of a longer and broader past and future effort that continues. The Alliance’s primary partner in Kosovo was the Ministry of Health (MoH), and there were two primary components. The antenatal care in family medicine component addressed Kosovo priorities in primary care and family medicine while implementing antenatal care at family medicine centers using the World Health Organization (WHO)-recommended guidelines. The perinatal care component included technical and material assistance at the University Clinical Center in Pristina to introduce, educate, and support evidence-based interventions, including prenatal steroids, the Neonatal Resuscitation Program (NRP), continuous positive airway pressure (CPAP), and exogenous surfactant. The strategy of the Alliance employed education and clinical interventions to address a primary goal of system development. Observation and comments included the conclusion that the Alliance was successful as an improvement and change agent that advanced perinatal or reproductive system- and nation-building. This pilot program can serve as a foundation for further effort.

]]> 2008-05-30 info:doi/10.1542/neo.9-6-e233 American Academy of Pediatrics 6 9 e241 2008-06-01 e233 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/6/e242?rss=1 Arrhythmias in fetuses and newborns are relatively common, occurring in up to 90% of newborns and in 1% to 3% of pregnancies. Although life-threatening arrhythmias are uncommon, practitioners should be aware of the more common disorders of rhythm and conduction that can affect fetuses and neonates. This article reviews the healthy newborn electrocardiogram (ECG) and discusses both benign and life-threatening disorders of cardiac rhythm in neonates, including premature atrial and ventricular contractions, atrioventricular block, congenital complete heart block, supraventricular tachycardias, ventricular tachycardias, and long QT syndrome. We also review the diagnosis and management of fetal arrhythmias.

]]> 2008-05-30 info:doi/10.1542/neo.9-6-e242 American Academy of Pediatrics 6 9 e252 2008-06-01 e242 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/6/e253?rss=1 Hypoplastic left heart syndrome (HLHS) is the only congenital heart lesion that requires the talents of the neonatologist, pediatric cardiologist, and cardiovascular surgeon operating and communicating as a team to effect the desired outcome of survival with normal neurodevelopment. Prenatal diagnosis, initial resuscitation, and preoperative management are key elements that allow the best opportunity for low surgical morbidity and mortality in the affected infant. Physicians and nurses caring for such infants must understand the physiology of oxygen delivery and the response of the neonatal pulmonary and systemic vascular bed to interventions that affect the balance between systemic and pulmonary blood flow. Outcomes with current surgical management, including the Norwood procedure and the Sano modification, are equivalent to those associated with the arterial switch procedure and repair of neonatal tetralogy of Fallot. Families of infants born with HLHS should be encouraged by the current results of palliation and long-term outcome.

]]> 2008-05-30 info:doi/10.1542/neo.9-6-e253 American Academy of Pediatrics 6 9 e259 2008-06-01 e253 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/6/e260?rss=1 Bronchopulmonary dysplasia (BPD) continues to be a major morbidity in preterm infants, especially among the most immature neonates. Although BPD is a multifactorial disease, persistent inflammation is believed to be the final common pathway in its evolution. BPD initially presents with an exudative phase primarily in the immature preterm neonate still receiving respiratory support around 7 to 10 days of age. During this phase, pulmonary edema develops due to proinflammatory cytokine-induced increased alveolar-capillary membrane permeability. Persistence of a patent ductus arteriosus (PDA) with left-to-right shunting or administration of excessive intravenous fluids during this period also promotes pulmonary overcirculation, thus contributing to the pulmonary edema. The associated increased lung water content results in decreased lung compliance both in evolving and established BPD. Diuretics are administered to prevent or treat the pulmonary edema and control total body sodium content. The most commonly used diuretics are furosemide (a loop diuretic), chlorothiazide, and spironolactone. Loop diuretics primarily exert their effects by inhibiting the 2Cl^–,Na⁺-K⁺ cotransporter in the kidney and the lungs, resulting in diuresis and decreased pulmonary edema formation, respectively. Treatment with diuretics is associated with decreased pulmonary edema and airway resistance as well as improvements in lung compliance. However, diuretics have potentially significant adverse effects, including fluid and electrolyte imbalance, osteopenia, nephrocalcinosis, hearing impairment, and growth failure. There is no evidence that the use of diuretics has an effect on the long-term pulmonary or nonpulmonary outcomes in infants who have BPD.

]]> 2008-05-30 info:doi/10.1542/neo.9-6-e260 American Academy of Pediatrics 6 9 e267 2008-06-01 e260 Articles http://neoreviews.aappublications.org/cgi/content/full/9/6/e268?rss=1 2008-05-30 info:doi/10.1542/neo.9-6-e268 American Academy of Pediatrics 6 9 e270 2008-06-01 e268 Articles http://neoreviews.aappublications.org/cgi/content/short/9/6/e271?rss=1 2008-05-30 info:doi/10.1542/neo.9-6-e271 American Academy of Pediatrics 6 9 e271 2008-06-01 e271 Visual Diagnosis http://neoreviews.aappublications.org/cgi/content/full/9/5/e187?rss=1 2008-05-01 info:doi/10.1542/neo.9-5-e187 American Academy of Pediatrics 5 9 e191 2008-05-01 e187 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/5/e192?rss=1 The developing fetus that exists in a privileged and relatively sterile environment has no major requirement for protection against invading organisms or other mechanisms of injury. When that fetus transforms into a preterm infant, survival necessitates rapid activation of immune function. The systemic and mucosal immune response is orchestrated by myriad locally functioning chemicals called chemokines and cytokines. This article reviews the structure, function, and cellular population of these compounds as well as their roles in the development or protection against the diseases of preterm infants.

]]> 2008-05-01 info:doi/10.1542/neo.9-5-e192 American Academy of Pediatrics 5 9 e198 2008-05-01 e192 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/5/e199?rss=1 Preterm infants receiving intensive care have high rates of nosocomial infections. Developmental facets of host defense, medical interventions, and the hospital environment contribute to septicemia rates exceeding 40% in extremely low-birthweight infants. Septicemia is an important cause of morbidity and mortality in these fragile infants. This review focuses on the neonate's relative deficiencies of innate and humoral immunity and describes strategies to modify the immune response to prevent nosocomial infection. Human milk feeding is an effective immune modifier and decreases infection rates in hospitalized preterm infants. Results of studies of pharmacologic agents such as polyclonal intravenous immune globulin and colony-stimulating factors to reduce nosocomial infections have been mixed. Specifically targeted immunotherapy with monoclonal antibodies and probiotics are being investigated and may become effective tools to reduce nosocomial infections in the future.

]]> 2008-05-01 info:doi/10.1542/neo.9-5-e199 American Academy of Pediatrics 5 9 e205 2008-05-01 e199 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/5/e206?rss=1 Neonatal lupus syndromes are caused by maternal antibodies targeting proteins displayed on apoptotic blebs. Mothers frequently are healthy and unaware of their autoantibody status. Manifestations in infants include rashes, cytopenias, hepatobiliary disease, heart block, and rarely, cardiomyopathies. Cerebral dysmaturation, ventriculomegaly, and lenticulostriate vasculopathy are recently described manifestations. Rhizomelic chondrodysplasia punctata, pneumonitis, nephritis, and multiorgan failure are rare. Coexisting antithyroid and antiphospholipid antibodies may complicate the presentation. Symptoms typically disappear with the clearance of maternal antibodies from the neonatal circulation, except in cases where the disease is extensive or involves vulnerable tissues. Early diagnosis, close monitoring, and appropriate intervention with immunosuppressive treatment may subvert organ-threatening disease in select cases.

]]> 2008-05-01 info:doi/10.1542/neo.9-5-e206 American Academy of Pediatrics 5 9 e217 2008-05-01 e206 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/5/e218?rss=1 Neonatal hemochromatosis (NH), although rare, is the most common cause of liver failure in the neonate. This disorder is associated with extrahepatic siderosis and has been called neonatal iron storage disease. The pathogene sis was a mystery until 2004, when Peter Whitington hypothesized that NH may be an immune-mediated disorder. Clinical and laboratory findings demonstrate liver failure but usually are nonspecific. Evidence of extrahepatic siderosis by magnetic resonance imaging with decreased intensity of T2-weighted sequences of specific organs confirms the diagnosis. Treatment of NH is challenging, and survival rates are dismal despite medical agents (ie, iron chelators and antioxidants) or liver transplantation. Recently, NH has been prevented in subsequent pregnancies by administering intrauterine immunoglobulin to pregnant women, changing NH from a lethal to a nonlethal disease.

]]> 2008-05-01 info:doi/10.1542/neo.9-5-e218 American Academy of Pediatrics 5 9 e222 2008-05-01 e218 Articles http://neoreviews.aappublications.org/cgi/content/full/9/5/e223?rss=1 2008-05-01 info:doi/10.1542/neo.9-5-e223 American Academy of Pediatrics 5 9 e225 2008-05-01 e223 Articles http://neoreviews.aappublications.org/cgi/content/short/9/5/e226?rss=1 2008-05-01 info:doi/10.1542/neo.9-5-e226 American Academy of Pediatrics 5 9 e226 2008-05-01 e226 Visual Diagnosis http://neoreviews.aappublications.org/cgi/content/full/9/4/e137?rss=1 2008-04-01 info:doi/10.1542/neo.9-4-e137 American Academy of Pediatrics 4 9 e141 2008-04-01 e137 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/4/e142?rss=1 For more than 2 decades, the Neonatal Resuscitation Program (NRP) of the American Academy of Pediatrics (AAP) has set a national standard and international example for training in the resuscitation of the newborn. The concept of a standardized approach to neonatal resuscitation, based on the best available evidence, was revolutionary in 1987 when the NRP was officially launched. Because the NRP continues to adapt, it remains one of the most successful educational interventions in health care. This article describes its genesis, continuing adaptation, and prospects for evolution in the next decade.

]]> 2008-04-01 info:doi/10.1542/neo.9-4-e142 American Academy of Pediatrics 4 9 e149 2008-04-01 e142 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/4/e150?rss=1 Effective management of fluid and electrolyte homeostasis for the critically ill neonate requires a general understanding of renal development and changes that occur during the transition from the intrauterine to extrauterine environment. The maturation of kidney function and differences in regulation of body fluid tonicity and volume as well as acid-base balance and homeostasis of individual elements between preterm and term infants can have a substantial impact on therapies administered to neonates and the effects of such therapies.

]]> 2008-04-01 info:doi/10.1542/neo.9-4-e150 American Academy of Pediatrics 4 9 e161 2008-04-01 e150 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/4/e162?rss=1 Bleeding syndromes in the newborn are rare, but they may be life-threatening and demand immediate attention. Results of an initial coagulation evaluation often can direct the clinician toward diagnostic possibilities, as can the degree of illness manifested by the infant. Among the potential causes of neonatal bleeding are platelet disorders, neonatal hemophilia and other congenital clotting factor deficiencies, vitamin K deficiency syndromes, liver failure, and disseminated intravascular coagulation. Depending on the cause, platelet or protein concentrates may be used for transfusion therapy.

]]> 2008-04-01 info:doi/10.1542/neo.9-4-e162 American Academy of Pediatrics 4 9 e169 2008-04-01 e162 Articles http://neoreviews.aappublications.org/cgi/content/full/9/4/e170?rss=1 2008-04-01 info:doi/10.1542/neo.9-4-e170 American Academy of Pediatrics 4 9 e173 2008-04-01 e170 Articles http://neoreviews.aappublications.org/cgi/content/full/9/4/e174?rss=1 2008-04-01 info:doi/10.1542/neo.9-4-e174 American Academy of Pediatrics 4 9 e179 2008-04-01 e174 Articles http://neoreviews.aappublications.org/cgi/content/short/9/4/e180?rss=1 2008-04-01 info:doi/10.1542/neo.9-4-e180 American Academy of Pediatrics 4 9 e180 2008-04-01 e180 Visual Diagnosis