Showing papers in "Current Opinion in Pediatrics in 2012"
TL;DR: AKI is an independent risk factor for poor outcomes in critically ill neonates and commitment to using standardized AKI definitions in order to pool and compare data more effectively and improvement in diagnostic methods with better AKI biomarkers so that the authors can identify AKI and intervene much earlier in the disease course.
Abstract: Purpose of reviewAcute kidney injury (AKI) is associated with increased risk of morbidity and mortality in critically ill children and adults. Neonates remain an understudied group, although previous evidence suggests that this association holds true for them as well.Recent findingsAttention to the
229 citations
TL;DR: Although prior studies have examined the effects of caffeine in adolescents, energy drinks should be considered a novel exposure and urgent research on the safety of energy drink use in children and adolescents is mandates.
Abstract: Purpose of review‘Energy drinks’, ‘energy shots’ and other energy products have exploded in popularity in the past several years; however, their use is not without risk. Caffeine is the main active ingredient in energy drinks, and excessive consumption may acutely cause caffeine intoxication, result
171 citations
TL;DR: Recent scientific and clinical insights are expanding understanding and recognition of HLH, driving an evolution in how it is defined, and suggesting future directions for improving therapy of this disorder.
Abstract: Purpose of reviewHemophagocytic lymphohistiocytosis (HLH) is an immune dysregulatory syndrome that is associated with underlying defects of perforin-dependent cytotoxic function. This review seeks to update readers on new scientific insights and evolving clinical concepts related to this rare but fa
170 citations
TL;DR: The novel investigation of the neonatal microbiome is beginning to unearth substantial information, with a focus on immune programming that coevolves with the developing microbiome early in life.
Abstract: Purpose of review
Bacterial colonization of the infant intestinal tract begins at birth. We are at the forefront of understanding complex relationships between bacteria and multiple parameters of health of the developing infant. Moreover, the establishment of the microbiome in the critical neonatal period is potentially foundational for lifelong health and disease susceptibility. Recent studies utilizing state-of-the-art culture-independent technologies have begun to increase our knowledge about the gut microbiome in infancy, the impact of multiple exposures, and its effects on immune response and clinical outcomes such as allergy and infection.
116 citations
TL;DR: Understanding the pathophysiology of concussion in the pediatric population can potentially open therapeutic avenues to decrease symptom persistence and prevent further injury.
Abstract: PURPOSE OF REVIEW: According to recent Centers for Disease Control (CDC) data, the annual incidence of traumatic brain injury (TBI) in the United States is 1.6-3.2 million, of which the majority is classified as mild. Over half of these injuries occur in the pediatric population, and can often be attributed to a sports-related mechanism. Although postconcussion symptoms are usually short-lived, more lasting deficits can occur, which can be particularly disruptive to the developing brain. Recent literature detailing the pathophysiology of mild TBI (mTBI), with attention to pediatric studies, is presented. RECENT FINDINGS: Although concussion generally does not produce any structural damage on conventional computed tomography (CT) or MRI, advanced neuroimaging modalities reveal microstructural and functional neurobiological changes. Diffuse axonal injury, metabolic impairment, alterations in neural activation and cerebral blood flow perturbations can occur and may contribute to acute symptomatology. Although these physiological changes usually recover to baseline in 7-10 days, sustaining recurrent injury before full recovery may increase the potential for persistent deficits. SUMMARY: Understanding the pathophysiology of concussion in the pediatric population can potentially open therapeutic avenues to decrease symptom persistence and prevent further injury. Future studies in the pediatric population are necessary given the pathophysiologic differences between the developing and adult brains. Language: en
110 citations
TL;DR: Successful therapies that help minimize postnatal scar formation can be realized through understanding the cellular and molecular mechanisms of fetal regenerative wound healing.
Abstract: Purpose of review
The mid-gestation fetus is capable of regenerative healing with wound healing indistinguishable from surrounding skin. This review aims to evaluate the current knowledge of how the mid-gestation fetus heals without scar and the implications of these findings in efforts to recapitulate the fetal regenerative phenotype in the postnatal environment.
106 citations
TL;DR: Physicians should be aware of the complexity of the maternal, fetal, and infant factors that combine to create the infant's display of NAS, and incorporate these aspects into comprehensive assessment and care of the dyad.
Abstract: Purpose of reviewThis review will discuss the complex nature of maternal and other factors that can affect the infant's display of neonatal abstinence syndrome (NAS), clinical presentation and treatment of NAS, and the impact of recent findings on future directions for research.Recent findingsNAS ha
98 citations
TL;DR: On the basis of novel advances, the diagnostic algorithm and recommended treatment for ALPS have changed significantly, improving quality of life for many patients and better defining the pathophysiology of ALPS.
Abstract: Purpose of Review
Autoimmune Lymphoproliferative Syndrome (ALPS) is a disorder of disrupted lymphocyte homeostasis, resulting from mutations in the Fas apoptotic pathway. Clinical manifestations include lymphadenopathy, splenomegaly, and autoimmune cytopenias. A number of new insights have improved the understanding of the genetics and biology of ALPS. These will be discussed in this review.
93 citations
TL;DR: An update on recently discovered human deafness genes and advances in comprehensive genetic testing platforms for deafness are described, both of which have been enabled by new massively parallel sequencing technologies.
Abstract: Purpose of reviewTo provide an update on recently discovered human deafness genes and to describe advances in comprehensive genetic testing platforms for deafness, both of which have been enabled by new massively parallel sequencing technologies.Recent findingsOver the review period, three syndromic
85 citations
TL;DR: Connecting teen mothers with comprehensive services to meet their social, economic, health and educational needs can potentially improve long-term outcomes for both mothers and their offspring.
Abstract: PURPOSE OF REVIEW: Adolescent childbearing in the United States continues to occur at high rates compared with other industrialized nations despite a recent decline. Adolescent mothers and their offspring are at risk for negative outcomes. Recent literature exploring the consequences of teenage childbearing and interventions to ameliorate these consequences are presented. RECENT FINDINGS: Negative consequences of adolescent childbearing can impact mothers and their offspring throughout the lifespan. These consequences are likely attributable to social and environmental factors rather than solely to maternal age. Increasing educational attainment preventing repeat pregnancy and improving mother-child interactions can improve outcomes for mothers and their children. Home community school and clinic-based programs are all viable models of service delivery to this population. SUMMARY: Connecting teen mothers with comprehensive services to meet their social economic health and educational needs can potentially improve long-term outcomes for both mothers and their offspring. Programs that deliver care to this population in culturally sensitive developmentally appropriate ways have demonstrated success. Future investigation of parenting interventions with larger sample sizes and that assess multiple outcomes will allow comparison among programs. Explorations of the role of the father and coparenting are also directions for future research.
84 citations
TL;DR: The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.
Abstract: Purpose of review Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Recent findings Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. Summary The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.
TL;DR: A balanced approach to counseling families of the newborn with trisomy 18 and 13 at the time of diagnosis is recommended, which should include presentation of accurate survival figures, avoidance of language that assumes outcome, communication of developmental outcome that does not presuppose perception of quality of life, and respect for the family's choice.
Abstract: Purpose of review At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers face difficult and challenging decisions regarding management. Because of the increased infant mortality and developmental outcome associated with both conditions, the conventional approach to management has been to withhold technological support. In recent years, an active dialogue on this topic has emerged. The purpose of this review is to summarize the literature on the outcome of infants with trisomy 18 and 13 and to discuss the key themes in this emerging dialogue. Recent findings In recent years, several important studies have appeared that have analyzed the issues relevant to this topic, including parental autonomy, best interest of the child standard, and quality of life. Some authorities state that in areas of ambiguity it is best to defer to parents’ views, whereas others indicate concern that the best interest standard has given way to parental autonomy. Information on the actual experience of parents of children with trisomy 18 and 13 has been limited until recently. Summary The author recommends a balanced approach to counseling families of the newborn with trisomy 18 and 13 at the time of diagnosis. The counseling process should include presentation of accurate survival figures, avoidance of language that assumes outcome, communication of developmental outcome that does not presuppose perception of quality of life, and respect for the family’s choice, whether it be comfort care or intervention.
TL;DR: The number of high school athletes being diagnosed with sport-related concussions is rising and coaches are becoming increasingly aware of these injuries and return-to-play guidelines are being implemented.
Abstract: Purpose of reviewSport-related concussion affects athletes at every level of participation The short and long-term effects of concussions that occur during childhood and adolescence are not fully understood The purpose of this review is to describe the current burden of disease, current practice p
TL;DR: Newborn screening provides an opportunity to identify and begin treatment early in individuals with CF, and all programs can benefit from new findings regarding sweat testing, carrier detection, early pathophysiology, and clinical outcomes.
Abstract: Early diagnosis of cystic fibrosis (CF) provides an opportunity to improve disease control and prevent early complications. Of patients with CF in the United States, 10% are identified early through newborn screening (including infants born in Colorado, Massachusetts, New Jersey, New York, Wisconsin, Wyoming, and parts of California, Connecticut, Pennsylvania, and Montana). Successful screening programs in these states have stimulated other states to consider adding CF screening to their newborn programs. Additionally, new technology permits expanded screening for numerous genetic conditions. Genetic screening, such as that used most frequently for CF, creates new challenges for the clinician, including atypical disease presentations and carrier detection. In this review, we examine the many advances in CF newborn screening and early care that were reported during the last few years.
TL;DR: The pathophysiology of chylothorax in patients after surgery for congenital heart disease, its implications and the current therapies available are reviewed.
Abstract: Purpose of reviewPostoperative chylothorax is a frequently encountered pathology in the cardiac intensive care unit. The continuous loss of chyle is a challenging problem to treat and is associated with increased morbidity and mortality. The purpose of this article is to review the pathophysiology o
TL;DR: The detection of LCCSCTs may point to an underlying genetic multiple neoplasia syndrome such as PJS or CNC, and surgery is rarely indicated and aromatase inhibitors constitute an effective treatment for those cases that are associated with gynecomastia and/or advanced skeletal age.
Abstract: PURPOSE OF REVIEW The aim of this review is to describe the clinical, biochemical, radiographic, histological, and functional characteristics of large-cell calcifying Sertoli cell tumors of the testes (LCCSCTs). We describe the two main syndromes associated with these tumors: Peutz-Jeghers syndrome (PJS) caused mainly by mutations in the STK11 (aka LKB1) gene, which encodes a serine-threonine kinase, and Carney complex (CNC), which is most often caused by PRKAR1A mutations, the gene encoding regulatory subunit type 1 of protein kinase A. RECENT FINDINGS Relatively few patients have been reported in the literature with LCCSCTs. In children they often present as prepubertal and/or peripubertal gynecomastia. Although these tumors are very rare, they occur with higher frequency among patients with PJS and CNC. Orchiectomy was often performed in the past; however, these tumors are overwhelmingly benign and, unless there are significant hormonal changes or pain and/or mass effects, there is no need for surgery. Tumors that lead to hyperestrogenemia may be treated efficiently with aromatase inhibitors; any change in appearance should prompt evaluation for malignancy. SUMMARY The detection of LCCSCTs may point to an underlying genetic multiple neoplasia syndrome such as PJS or CNC. Surgery is rarely indicated and aromatase inhibitors constitute an effective treatment for those cases that are associated with gynecomastia and/or advanced skeletal age.
TL;DR: There is evidence that exposure to some infectious organisms can protect from atopy, whereas other infections appear to promote allergic diseases.
Abstract: Purpose of reviewThe increase in incidence and prevalence of allergic disease remains a mystery and cannot be explained solely by genetic factors. The hygiene hypothesis provides the strongest epidemiological explanation for the rise in allergic disease. This review evaluates the recent epidemiologi
TL;DR: Novel classification and risk stratification based on biologic subtypes of disease will form the basis of further study in medulloblastoma and identify specific subtypes that warrant greater research focus.
Abstract: Purpose of Review
Most children diagnosed with cancer today are expected to be cured. Medulloblastoma, the most common pediatric malignant brain tumor, is an example of a disease that has benefitted from advances in diagnostic imaging, surgical techniques, radiation therapy and combination chemotherapy over the past decades. An incurable disease 50 years ago, approximately 70% of children with medulloblastoma are now cured of their disease. However, the pace of increasing the cure rate has slowed over the past two decades, and we have likely reached the maximal benefit that can be achieved with cytotoxic therapy and clinical risk stratification. Long-term toxicity of therapy also remains significant. To increase cure rates and decrease long-term toxicity, there is great interest in incorporating biologic “targeted” therapy into treatment of medulloblastoma, but this will require a paradigm shift in how we classify and study disease.
TL;DR: An overview of clinical manifestations, diagnosis and pathophysiology of food protein-induced enterocolitis syndrome (FPIES), an under-recognized and often misdiagnosed nonimmunoglobulin E-mediated food hypersensitivity, is provided.
Abstract: PURPOSE OF REVIEW To provide an overview of clinical manifestations, diagnosis and pathophysiology of food protein-induced enterocolitis syndrome (FPIES), an under-recognized and often misdiagnosed nonimmunoglobulin E-mediated food hypersensitivity. This review will highlight updates on natural history and clinical management. RECENT FINDINGS The main developments in FPIES involve epidemiology, common presentation and variants thereof, and natural history. Improved understanding and recognition of FPIES have influenced changes in clinical management. SUMMARY A large prospective population-based study reported cow's milk-FPIES cumulative incidence to be 0.34% by 1 year of age; immunoglobulin E-mediated cow's milk allergy was 0.5%. A case report has suggested that FPIES pathophysiology involves Th2 activation, and a shift away from Th2 signalling may be associated with resolution. Appreciation of the frequent incidence of multiple food-FPIES has influenced anticipatory guidance. Two case reports have described FPIES to food proteins in maternal breast milk. The threshold dose for FPIES reactivity may decrease with successive episodes. Reports from different populations indicate that children may outgrow FPIES sooner than previously thought.
TL;DR: The recent insights into the pathogenesis of MFS and related disorders have offered a prime example of translational medicine with immediate bridge between molecular findings and therapeutic options.
Abstract: PURPOSE OF REVIEW: Although historically Marfan syndrome (MFS) has always been considered as a condition caused by the deficiency of a structural extracellular matrix protein, fibrillin-1, the study of Marfan mouse models and Marfan-related conditions has shifted our current understanding to a pathogenic model that involves dysregulation of the cytokine-transforming growth factor beta (TGF-beta) signaling. RECENT FINDINGS: In this review, we focus on the impact of the revised MFS clinical diagnostic criteria. We discuss lessons that have been learned from molecular findings in relevant Marfan-related conditions, such as sporadic thoracic aortic aneurysm/dissection, stiff skin syndrome, acromelic dysplasias and Loeys-Dietz syndrome. We explore the latest insights into the role of the alternative TGF-beta signaling pathways in MFS pathogenesis. Finally, we give an update on the current and future treatment strategies. SUMMARY: The recent insights into the pathogenesis of MFS and related disorders have offered a prime example of translational medicine with immediate bridge between molecular findings and therapeutic options.
TL;DR: Those with the presence of this dual diagnosis are more likely to be nonadherent to treatment and may well have poorer outcomes, and integrated care for the maladies rather than split or isolated care is recommended.
Abstract: Purpose of reviewThe term ‘dual diagnosis’ most commonly refers to the combination of severe mental illness and substance-use disorder (SUD). It is estimated that 7–10 million people in the USA alone have at a minimum one psychiatric disorder in addition to a SUD. As many of the psychiatric illnesse
TL;DR: This review will evaluate the following: in-vivo technology being used in American football players; impact frequencies and magnitudes; and the biomechanical threshold for concussion.
Abstract: PURPOSE OF REVIEW: Recent technological advances have allowed the in-vivo measurement of impacts sustained to the head during helmeted sports. These measurements are of interest to researchers and clinicians for their potential to understand both the underlying mechanics of concussive injuries and the potential for real-time injury diagnostics. Following an overview of impact biomechanics, this review will evaluate the following: in-vivo technology being used in American football players; impact frequencies and magnitudes; and the biomechanical threshold for concussion. RECENT FINDINGS: The average high school athlete sustains over 650 impacts in a season, and the level at which concussion occurs is approximately 100 g and 5500 rad/s/s. SUMMARY: High school athletes sustain a significant number of head impacts each year. The impacts are similar in both volume and magnitude when compared with collegiate athletes. The magnitude of impact that results in concussion is also the same at both levels of play, although the collegiate athlete may have a higher injury tolerance. Language: en
TL;DR: This review will focus on important genetic factors that influence nephrogenesis and highlight important human disorders that are associated with anomalies of kidneys, proximal and distal urinary tract.
Abstract: Purpose of review Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most frequent organ malformations. They are a relevant cause of chronic renal failure in children. Apart from isolated forms of CAKUT, more than 500 syndromes have been described that are characterized by combined defects of the kidney and other organ systems. Familial aggregation of renal malformations in approximately 10% of patients suggests that genetic events might be involved. Modifying effects due to missense mutations in additional developmental genes seem to enhance the phenotypic variability in affected families. In these families, genetic counseling can be difficult. In contrast, in patients with defined autosomal dominant disease, genetic counseling is of high clinical relevance, also with respect to additional extrarenal symptoms. Recent findings Due to the development of numerous genetic knock-out mouse models, the identification of specific renal developmental genes and the application of novel sequencing techniques of the human genome, our understanding of kidney organogenesis has largely improved during very recent years. Summary This review will focus on important genetic factors that influence nephrogenesis and highlight important human disorders that are associated with anomalies of kidneys, proximal and distal urinary tract.
TL;DR: The best available evidence suggests that most patients do well after posterior fusion for adolescent idiopathic scoliosis, although outcomes are adversely affected if patients develop positive sagittal balance.
Abstract: Purpose of reviewTo summarize recent literature regarding long-term follow-up after spinal fusion for patients with adolescent idiopathic scoliosis. In particular, this review includes a review of research which provides insight into long-term results after fusion using pedicle screw stabilization,
TL;DR: Highlights include new combinations of biomarkers unearthed by proteomics-based research and identification of sepsis based on gene expression profiling, which are rapidly advancing in sophistication and may soon be useful as adjunctive bacterial identification tests.
Abstract: Purpose of reviewTo present recent literature on novel diagnostic tests in neonatal sepsis.Recent findingsOur review of technologies for the rapid diagnosis of neonatal sepsis includes new adaptations of time-honored tests as well as advances on the forefront of medicine. A recent study demonstrates
TL;DR: Two well tolerated and effective rotav virus vaccines have reduced the health burden of rotavirus gastroenteritis in both developed and developing countries.
Abstract: PURPOSE OF REVIEW: Rotavirus infection is the most common cause of severe diarrhea disease in infants and young children worldwide and continues to have a major global impact on childhood morbidity and mortality. Two effective rotavirus vaccines are available and recommended for routine immunization of all infants. These vaccines have been introduced in both developed and developing countries. As rotavirus vaccines are implemented studies have been undertaken that assess the effects of vaccination on rotavirus disease in children. This review summarizes the results of these studies. RECENT FINDINGS: Studies that assess health impact indirect benefits and strain changes after the introduction of rotavirus vaccine have been reported. In industrialized countries rotavirus vaccination has led to dramatic drops in severe rotavirus-related hospitalizations and has reduced emergency room visits. Data from clinical trials in developing counties in Asia and Africa have demonstrated that rotavirus vaccines significantly reduce severe diarrhea episodes due to rotavirus. Herd (community) immunity has also been noted after routine rotavirus immunization in several countries. There have been no significant strain shifts or escape mutants noted since the introduction of rotavirus vaccines. SUMMARY: Two well tolerated and effective rotavirus vaccines have reduced the health burden of rotavirus gastroenteritis in both developed and developing countries.
TL;DR: The kidney undergoes many developmental physiologic changes as the neonate adapts to extra-uterine life, which will help in the medical management of these infants.
Abstract: Purpose of reviewAlthough nephrogenesis in a term infant is complete, there are a number of functional changes that occur in the kidney as the infant matures. Understanding these changes will aid in the evaluation of neonates to delineate what is normal development versus a pathophysiologic problem.
TL;DR: The pharmacokinetics and pharmacodynamics of the pediatric procedural sedation pharmacopeia are reviewed from a clinical perspective with emphasis on the practical implications for drug titration and dosing.
Abstract: Purpose of reviewProcedural sedation has become the standard of care for managing pain and anxiety in children in the emergency department.Recent findingsNumerous articles have been published on pediatric procedural sedation with, however, little in-depth discussion of the pharmacodynamics and pharm
TL;DR: Novel findings in recent years make it possible to unambiguously identify mutation carriers even before the development of BMF and exclude or confirm a suspected clinical diagnosis for many of the more common IBMFS.
Abstract: Purpose of the review
Inherited bone marrow failure syndromes (IBMFS) are a diverse set of genetic disorders characterized by the inability of the bone marrow to produce sufficient circulating blood cells. The purpose of this review is to highlight novel findings in the last years and their impact into the understanding of IBMFS.
TL;DR: Pediatricians should educate themselves regarding the accurate assessment of pain, and the pharmacologic and nonpharmacologic methods of managing acute pain.
Abstract: Purpose of reviewTo review recent research on the management of acute procedural pain in pediatric patients.Recent findingsPediatric patients experience pain with the same or greater intensity as their adult counterparts. Recent studies have acknowledged the importance of people's beliefs about pain