Showing papers in "Current Opinion in Pediatrics in 2000"
TL;DR: HSCR has become a model of a complex polygenic disorder in which the interplay of different genes is currently being elucidated, and for almost every HSCR gene, incomplete penetrance of the H SCR phenotype has been observed.
Abstract: Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively common disorder of neural crest migration. It has a strong genetic basis, although simple Mendelian inheritance is rarely observed. Hirschsprung disease is associated with several other anomalies and syndromes, and animal models for these conditions exist. Mutations in the RET gene are responsible for approximately half of familial cases and a smaller fraction of sporadic cases. Mutations in genes that encode RET ligands (GDNF and NTN); components of another signaling pathway (EDNRB, EDN3, ECE-1); and the transcription factor, SOX10, have been identified in HSCR patients. A subset of these mutations is associated with anomalies of pigmentation and/or hearing loss. For almost every HSCR gene, incomplete penetrance of the HSCR phenotype has been observed, probably due to genetic modifier loci. Thus, HSCR has become a model of a complex polygenic disorder in which the interplay of different genes is currently being elucidated.
199 citations
TL;DR: There is little benefit of antiviral treatment of uncomplicated or complicated infectious mononucleosis and Corticosteroids may have a role in hastening resolution of some complications, especially upper airway obstruction and possibly immune-mediated anemia and thrombocytopenia, but should be used judiciously.
Abstract: Infectious mononucleosis caused by Epstein-Barr virus (EBV) usually resolves over a period of weeks or months without sequelae but may occasionally be complicated by a wide variety of neurologic, hematologic, hepatic, respiratory, and psychological complications. The strength of association of EBV w
180 citations
TL;DR: The evidence supporting the hypothesis that the fetal inflammatory response contributes to neonatal brain injury and later developmental disability is discussed and intervention should be designed with the fetus in mind.
Abstract: Increasing evidence supports the view that infants exposed to perinatal infection are at increased risk for brain injury. We suggest that elevated cytokines in the amniotic fluid or in the fetal circulation be viewed as a humoral expression and that inflammatory cells in chorionic plate or umbilical
179 citations
TL;DR: Experimental studies have shown that moderate cerebral hypothermia initiated as soon as possible in the latent phase, before the onset of secondary injury, and continued for 48 hours or more is associated with potent, long-lasting neuroprotection.
Abstract: The possibility that hypothermia has a therapeutic role during or after resuscitation from severe perinatal asphyxia has been a longstanding focus of research. Early studies using short periods of cooling had limited and contradictory results. We now know that resuscitation can be followed by a "latent" phase, characterized by transient recovery of cerebral energy metabolism, before secondary deterioration occurs with seizures, cytotoxic edema, and cerebral energy failure 6 to 15 hours after birth. Recent experimental studies have shown that moderate cerebral hypothermia initiated as soon as possible in the latent phase, before the onset of secondary injury, and continued for 48 hours or more is associated with potent, long-lasting neuroprotection. These encouraging results must be balanced against the well-known adverse systemic effects of hypothermia. Randomized clinical trials are in progress to test the safety and efficacy of cerebral hypothermia.
176 citations
TL;DR: The importance of nutrition during pregnancy is reviewed from a pediatric perspective, with increasing evidence of competition for nutrients between the growing pregnant adolescent and her fetus.
Abstract: Prevention of unintended adolescent pregnancy is a primary goal of the American Academy of Pediatrics and of many health providers. Nevertheless, many adolescents become pregnant every year in America. Pediatricians therefore should be aware of nutritional recommendations for pregnant adolescents to provide optimal care. The importance of nutrition during pregnancy is here reviewed from a pediatric perspective. Pregnancy, particularly during adolescence, is a time of extreme nutritional risk. The adolescents most likely to become pregnant are often those with inadequate nutritional status and unfavorable socio-economic background. There is increasing evidence of competition for nutrients between the growing pregnant adolescent and her fetus. Also, the prenatal environment has been implicated in the development of obesity, cardiovascular disease, and diabetes in both the mother and her offspring. Many adolescents have poor diet quality and poor knowledge of appropriate nutrition; these habits may not change during pregnancy. Current knowledge and recommendations regarding the intake of energy, calcium, and folate are discussed in detail.
118 citations
TL;DR: The presently available lengthy and complicated procedure for estimation of plasma vWF-cleaving metalloprotease activity is not yet practical for rapid diagnostic use and this test has supplanted the equally lengthy and difficult, less specific analysis of Plasma vWF multimeric pattern.
Abstract: Objective.—To evaluate the usefulness and feasibility of measuring plasma von Willebrand factor (vWF)-cleaving metalloprotease activity (ADAMTS 13) in the differential diagnosis of thrombotic thrombocytopenic purpura (TTP), the hemolytic uremic syndrome, and other thrombotic microangiopathies. Data Sources.—Articles published in the medical literature. Data Extraction and Synthesis.—In TTP, a multimeric form of vWF that is larger than that ordinarily found in the plasma may cause systemic platelet aggregation under the high-shear conditions of the microcirculation. ADAMTS 13 is a divalent cation-activated, vWF-cleaving metalloprotease that converts unusually large vWF multimers derived from endothelial cells into smaller vWF forms in normal plasma. ADAMTS 13 is severely reduced or absent in most patients with TTP. The vWF-cleaving metalloprotease is present in fresh-frozen plasma, cryoprecipitate-depleted plasma (cryosupernatant), and in plasma that has been treated with solvent and detergent. Th...
113 citations
TL;DR: Microsurgical nerve repair has demonstrated to provide improved outcomes compared to conservative treatment, while advancements in secondary reconstruction have offered significant improvements in the performance of activities of daily living for older children with unresolved plexus palsy.
Abstract: Perinatal brachial plexus palsy (PBPP) has been traditionally classified into three types: upper plexus palsy (Erb's) affecting the C5, C6, and +/- C7 nerve roots, lower plexus palsy (Klumpke's) affecting the C8 and T1 nerve roots, and total plexus palsy. Although most cases will resolve spontaneously, the natural history of the remaining cases is influenced by contractures of uninvolved muscle groups and subluxation or dislocation of the shoulder and elbow. Microsurgical nerve repair has demonstrated to provide improved outcomes compared to conservative treatment, while advancements in secondary reconstruction have offered significant improvements in the performance of activities of daily living for older children with unresolved plexus palsy.
92 citations
TL;DR: A new periodic fever syndrome PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) has been characterized over the past decade and the cause is unknown and there are no reported sequelae.
Abstract: Periodic fevers (fevers that occur predictably at fixed intervals) are unusual in infants and children. The classic periodic fever syndrome is cyclic neutropenia (neutropenia followed by infections and fever that recur every 21 days). A new periodic fever syndrome PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) has been characterized over the past decade. PFAPA is defined clinically, because specific laboratory abnormalities have not been found. The clinical characteristic of PFAPA is high fevers (usually 40.0 degrees C to 40.6 degrees C) recurring at fixed intervals every 2 to 8 weeks. The fevers last for about 4 days, then resolve spontaneously. Associated with the fevers are aphthous stomatitis in 70% of patients, pharyngitis in 72% of patients, and cervical adenitis in 88% of patients. PFAPA is not familial and begins before the age of 5 years. An episode of PFAPA can be aborted with one or two small doses of prednisone. The episodes of PFAPA may last for years and the patient is well between episodes. The cause of PFAPA is unknown and there are no reported sequelae.
91 citations
TL;DR: A retrospective evaluation of clinical studies conducted before and after the introduction of absorbent gelling materials confirms that utilization of these materials has been associated with a marked reduction in the severity of diaper dermatitis.
Abstract: During the last decade, a number of technological innovations in disposable diaper designs and materials have aimed at reducing dermatological problems in the diaper area. The introduction of absorbent gelling materials led to a decrease in skin overhydration and made possible a more beneficial pH i
90 citations
TL;DR: One of four children in the United States lives in a family in which the child is exposed to alcoholism and children of alcoholics are two to ten times more likely to develop alcoholism than non-COAs as mentioned in this paper.
Abstract: One of four children in the United States lives in a family in which the child is exposed to alcoholism. Children of alcoholics (COAs) are two to ten times more likely to develop alcoholism than non-COAs. This paper reviews studies that have attempted to identify risk factors that mediate the increa
77 citations
TL;DR: The diagnosis of central isosexual precocity, a condition much more common in girls than in boys, is currently viewed as a spectrum of disorders between isolated premature thelarche and borderline early puberty as mentioned in this paper.
Abstract: The diagnosis of central isosexual precocity, a condition much more common in girls than in boys, is currently viewed as a spectrum of disorders between isolated premature thelarche and borderline early puberty. In some countries, a trend may be seen toward onset of puberty at earlier ages. Integrat
TL;DR: Sleep-disordered breathing, particularly the obstructive sleep apnea syndrome, is common during childhood and can lead to neurocognitive deficits, growth failure, and pulmonary hypertension.
Abstract: Sleep-disordered breathing, particularly the obstructive sleep apnea syndrome, is common during childhood. Complications include neurocognitive deficits, growth failure, and pulmonary hypertension. Nevertheless, sleep-disordered breathing is often unrecognized in children. New syndromes, such as the upper airway resistance syndrome, have recently been described. Polysomnography is invaluable for the evaluation of sleep-disordered breathing. Advances in diagnosis and management can alleviate much of the morbidity previously associated with sleep-related respiratory disorders.
TL;DR: Transient synovitis of the hip is one of the most common causes of hip pain and limp in young children and should remain one of exclusion, although recurrences are possible.
Abstract: Transient synovitis of the hip is one of the most common causes of hip pain and limp in young children. Its cause is still largely unknown, but its natural history is that of a self-limiting disorder with no residual sequelae, although recurrences are possible. Because this benign condition is simil
TL;DR: The biological differences of children make differences in fracture patterns and alter the management necessary for successful treatment of spine injuries, which remain a challenge despite some technical changes in assessment and treatment.
Abstract: Spine injury in children thankfully is still a relatively rare injury. The incidence of pediatric spine injuries has been reported as 2% to 5% of all spine injuries. The biological differences of children make differences in fracture patterns and alter the management necessary for successful treatment. The other factors that affect fracture production and associated injuries are head size relative to the body size, flexibility of the spine and supporting structures, the growth plates, and the elasticity and compressibility of the bone. The majority of compression injuries in children are made up of falls from a height. Spinal injuries in children remain a challenge despite some technical changes in assessment and treatment.
TL;DR: The importance of vesicoureteric reflux (VUR) in the pathogenesis of acute pyelonephritis has been downgraded with the recognition of the frequency with which kidney infection occurs in the absence of VUR.
Abstract: The past several years have brought marked changes in our understanding of the consequences of urinary tract infections (UTIs). Studies of infants with intrauterine dilatation of the urinary tract show that many children previously thought to have incurred kidney damage after an infection actually have congenital renal damage. The importance of vesicoureteric reflux (VUR) in the pathogenesis of acute pyelonephritis has been downgraded with the recognition of the frequency with which kidney infection occurs in the absence of VUR. Some infants with intrauterine VUR and no history of UTI have impaired kidney function or hypertension secondary to renal hypoplasia or dysplasia.
TL;DR: The purpose of the review is to subdivide the large field of MR into categories that may help professionals in making a diagnosis of nonspecific X-linked mental retardation.
Abstract: Aim of this review is to present the latest advances in the identification of the genetic determinants of intellectual deficiency. Mental retardation (MR) is often associated with other neurologic symptoms, metabolic disorders, or malformation syndromes. The purpose of the review is to subdivide the
TL;DR: Seroprevalence studies have provided evidence that the majority of children are infected by HAstV by 6 years of age, and the route of transmission is probably fecal-oral from food or water sources.
Abstract: Human astrovirus (HAstV) is a significant cause of acute diarrhea among children, resulting in outbreaks of diarrhea and occasionally in hospitalization. Improved detection methods for eight antigenic types of HAstV and studies assessing the frequency and severity of HAstV diarrhea have further defined the impact of HAstV infections in children. These studies have shown that HAstV infections are clinically milder (diarrhea, vomiting, fever) than rotavirus infections. However, frequent coinfection of HAstV with rotavirus and caliciviruses in childhood diarrhea complicates the epidemiology. Seroprevalence studies have provided evidence that the majority of children are infected by HAstV by 6 years of age. The route of transmission is probably fecal-oral from food or water sources. Recent and planned studies will help to define the epidemiology and in the future lead to prevention strategies, which could include vaccination.
TL;DR: The prevalence of these allergies may be increasing, but the reasons for these increases remain unclear as discussed by the authors, while the prevalence of tree-nut allergy may also increase with the number of trees.
Abstract: Allergy to peanut and tree nuts is a major worldwide health concern. The prevalence of these allergies may be increasing, but the reasons for these increases remain unclear. This group of foods accoun
TL;DR: Type 2 diabetes mellitus, a significant cause of adult morbidity and mortality, is being diagnosed more frequently in children and adolescents in Blacks, Hispanic Americans, and Native Ameri.
Abstract: Type 2 diabetes mellitus, a significant cause of adult morbidity and mortality, is being diagnosed more frequently in children and adolescents. Genetic predisposition and environmental factors are important determinants for the expression of this disease. Blacks, Hispanic Americans, and Native Americans are known to be at higher risk for type 2 diabetes mellitus as adults and there appears to be increased prevalence of the disease in adolescent members of these groups. Obesity, sedentary lifestyle, and high-fat diet are associated with type 2 diabetes mellitus. A combination of peripheral insulin resistance and relative insulin deficiency results in chronic hyperglycemia. The onset of hyperglycemia is usually slow and symptoms such as polyuria and polydipsia are often subtle and may go unrecognized by the patient. The treatment of children and adolescents with type 2 diabetes mellitus is an area of active study. Programs targeting diet modification and increased physical activity are being developed in hopes of delaying or preventing the onset of disease. This paper examines risk factors for the development of type 2 diabetes mellitus, reviews diagnostic criteria, and discusses newly established screening criteria for type 2 diabetes mellitus in children and adolescents.
TL;DR: Therapeutic strategies are evolving to augment cough and airway clearance, improve lung volumes, and support the patient with progressive ventilatory failure.
Abstract: Chronic neuromuscular diseases affect the respiratory muscles in varying patterns and degrees. As a result, patients with these disorders develop restrictive pulmonary disease, ineffective cough, atelectasis and pneumonia, and chronic respiratory insufficiency leading to respiratory failure. Therape
TL;DR: The major challenge before us in understanding the genetics of the epilepsies is to identify genes for common forms of epilepsy following complex inheritance and once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored.
Abstract: Recent molecular insights into the human idiopathic epilepsies have suggested the central role of ligand-gated and voltage-gated ion channels in their etiology. So far, genes coding for sodium and potassium channel subunits as well as a nicotinic cholinergic receptor subunit have been identified for Mendelian idiopathic epilepsies. In vitro and in vivo studies of mutations demonstrate functional changes, allowing new insights in mechanisms underlying hyperexcitability. Similarly, spontaneous murine epilepsy models have been associated with calcium channel molecular defects. The major challenge before us in understanding the genetics of the epilepsies is to identify genes for common forms of epilepsy following complex inheritance. Once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored.
TL;DR: The last 2 years have seen additions proposed to the very limited armamentarium of treatments for osteogenesis imperfecta, including the use of bisphosphonates to decrease bone resorption, growth hormone to augment growth and collagen production, and bone marrow transplantation to create chimeras at the level of the collagen production unit in bone.
Abstract: The last 2 years have seen additions proposed to the very limited armamentarium of treatments for osteogenesis imperfecta. These include the use of bisphosphonates to decrease bone resorption, growth hormone to augment growth and collagen production, and bone marrow transplantation to create chimera
TL;DR: To fully understand the cause and course of OCD, integrated assessment of psychological and biological vulnerability as well as prospective longitudinal studies are needed.
Abstract: Obsessive compulsive disorder (OCD) involves obsessions and compulsions that cause impairment and distress, and which interfere with children's developmental adaptation and daily functioning. Furthermore, OCD often disrupts peer and family relationships and school performance and may compromise physical health. Once considered rare, recent epidemiologic studies report prevalence rates ranging from 1% in prepubertal children to 4% in adolescents. In addition, children with OCD are at high risk for comorbid psychopathology. Recent theoretic formulations for OCD encourage the integration of both psychological and biological perspectives. To fully understand the cause and course of OCD, integrated assessment of psychological and biological vulnerability as well as prospective longitudinal studies are needed.
TL;DR: Collaboration of multiple federal agencies in a new strategy to eliminate childhood lead poisoning should further prevention efforts and lead chelation should complement environmental, nutritional, and educational interventions.
Abstract: Although past national public health efforts have reduced lead exposure significantly, lead poisoning remains the most common environmental health problem affecting American children. Currently, lead exposure occurs predominantly through ingestion of lead-contaminated household dust and soil in olde
TL;DR: Ten recent developments will have an impact on pediatric cardiac intensive care for the coming decades: emergence of new patient populations; new clinical methodologies in the treatment of pulmonary hypertension; innovations in techniques of respiratory support; and appreciation for global economics of intensive care.
Abstract: Pediatric cardiac intensive care has emerged as a distinct clinical entity to meet the unique needs of pediatric patients with congenital and acquired heart disease. This new subspecialty demands expertise and experience in the pediatric subspecialties of cardiology, intensive care, cardiac surgery, cardiac anesthesia, neonatology, and others. Ten recent developments will have an impact on pediatric cardiac intensive care for the coming decades: 1) emergence of new patient populations; 2) new clinical methodologies in the treatment of pulmonary hypertension; 3) innovations in techniques of respiratory support; 4) expanding research of single ventricle physiology; 5) advances in the treatment of heart failure; 6) improved noninvasive imaging; 7) new directions in interventional cardiac catheterization; 8) new techniques in pediatric cardiac surgery; 9) use of computer technology and intensive care monitoring; and 10) appreciation for global economics of intensive care. Finally, a multidisciplinary approach with a team esprit de corps remains vital to a successful pediatric cardiac intensive care program.
TL;DR: Interventions for minority asthmatic children should focus on improving access to asthma medical homes that deliver culturally appropriate and relevant care tailored to the needs of the family, improving family-provider communication, and improving knowledge and acceptance of asthma clinical practice guidelines, particularly for providers who work in community-based clinics.
Abstract: Minority children in the United States are at higher risk for asthma and related hospitalizations than white children, and their asthma tends to be more severe. Empirical studies have yet to demonstrate a definitive cause for their high risk and severity. The strongest candidate-predictors include c
TL;DR: It appears that heterozygous mutations of the GH receptor may cause partial GH insensitivity in a subset of patients with ISS, and further research into stature-related genes will likely contribute to the understanding of this population.
Abstract: Idiopathic short stature (ISS) refers to a heterogeneous group of children with marked growth failure of unknown cause, and encompasses familial short stature and constitutional delay of growth. It has been postulated that specific genetic mutations may explain certain cases of growth failure. Some patients with growth hormone (GH) deficiency have mutations in the GH-releasing hormone receptor or GH gene, whereas patients with GH insensitivity syndrome have mutations in the GH receptor or insulin-like growth factor-I gene. It appears that heterozygous mutations of the GH receptor may cause partial GH insensitivity in a subset of patients with ISS. Defects in the short stature homeobox-containing gene (SHOX) in the pseudoautosomal region of the sex chromosomes may cause the growth failure seen in the Leri-Weill and Turner syndromes, and in some familial cases of ISS. Further research into stature-related genes will likely contribute to our understanding of this population.
TL;DR: This paper highlights the more common pitfalls in diagnosis and management, calling upon classic and contemporary literature and the author's own combined 30-year experience in managing pediatric lower extremity problems.
Abstract: Ankle injuries occur with considerable frequency in the pediatric population, although diagnosis is rarely straightforward. In this paper, we highlight the more common pitfalls in diagnosis and management, calling upon classic and contemporary literature and our own combined 30-year experience in ma
TL;DR: A better understanding of the clinical course of, risk for significant bleeding in, and optimal evaluation and therapy of childhood ITP will require carefully designed, multicenter, clinical trials.
Abstract: Idiopathic thrombocytopenic purpura (ITP) is the most common acquired bleeding disorder encountered by pediatricians. Most children with ITP have minimal bleeding and complete platelet count recovery within weeks to months. Therapy for ITP has ranged from close observation without medical intervention to aggressive management with corticosteroids, intravenous immunoglobulin G, or anti-D immune globulin. The topic of ITP has incited great debate among practitioners, and this debate prompted the development of ITP practice guidelines by the British Paediatric Haematology Group in 1992 and by the American Society of Hematology in 1996. A better understanding of the clinical course of, risk for significant bleeding in, and optimal evaluation and therapy of childhood ITP will require carefully designed, multicenter, clinical trials.
TL;DR: Evidence for efficacy and current utilization of newer treatment modalities, including exogenous surfactant administration, high frequency ventilation, inhaled nitric oxide therapy, antenatal steroids for the prevention of respiratory distress syndrome, and use of postnatal steroids forThe prevention of chronic lung disease are reviewed.
Abstract: Acute respiratory failure is the most common problem seen in the preterm and term infants admitted to neonatal intensive care units. In preterm infants, the most common cause of acute respiratory failure is respiratory distress syndrome caused by surfactant deficiency. Acute respiratory failure in term and near term infants is usually a result of meconium aspiration syndrome, sepsis, pulmonary hypoplasia, and primary pulmonary hypertension of the newborn. The response to various methods of treatment may vary, depending on the severity of respiratory failure and the cause of the acute respiratory failure. We reviewed the evidence for efficacy and current utilization of newer treatment modalities, including exogenous surfactant administration, high frequency ventilation, inhaled nitric oxide therapy, antenatal steroids for the prevention of respiratory distress syndrome, and use of postnatal steroids for the prevention of chronic lung disease.