Abstract:
PURPOSE OF REVIEW:The clinical importance of overgrowth syndromes in the pediatric patient population has been increasingly recognized during the past decade, but clinical overlap among overgrowth syndromes often makes diagnostic categorization difficult. Advances in the molecular delineation of overgrowth syndromes in recent years have furthered our knowledge of the phenotypic spectrum of this group of conditions. This review focuses on developments in our understanding of the molecular mechanisms and phenotype-genotype correlations in the two most common overgrowth syndromes, Beckwith-Wiedemann syndrome and Sotos syndrome. The implications of these findings with respect to clinical diagnosis, medical management, and genetic counseling are discussed. RECENT FINDINGS:Recent reports have redefined the cardinal clinical features of Sotos syndrome, and the identification of two distinct types of molecular alterations in patients with this syndrome has enabled assessment of phenotype-genotype correlations. Recent studies in patients with Beckwith-Wiedemann syndrome have further expanded our understanding of the causative molecular mechanisms of this condition and provide evidence for specific genotype-phenotype correlations, most notably with respect to tumor risk. SUMMARY:Recognition of childhood overgrowth and investigation of diagnostic causes is important in anticipating appropriate medical management and facilitating the provision of genetic counseling. New developments in our understanding of the molecular basis and phenotypic expression of overgrowth syndromes provide additional tools in this often challenging process.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Cytrynbaum CS,Smith AC,Rubin T,Weksberg Rdoi
10.1097/01.mop.0000187191.74295.97keywords:
subject
Has Abstractpub_date
2005-12-01 00:00:00pages
740-6issue
6eissn
1040-8703issn
1531-698Xpii
00008480-200512000-00012journal_volume
17pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:Osteoid osteoma is a benign painful bone tumor usually found in the lower extremities of children and young adults. It has been traditionally treated by surgical excision. Despite the small size of the lesion, the operative procedure for its removal can be extensive, but still sometimes remains incomp...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000193277.47119.15
更新日期:2006-02-01 00:00:00
abstract:PURPOSE OF REVIEW:This review outlines the current approaches to prenatal imaging, differential diagnosis, antenatal natural history, and the available treatment options for the most commonly prenatally diagnosed malignant tumors. RECENT FINDINGS:In-utero diagnosis of fetal tumors, although still a rare event, has bec...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835c1d71
更新日期:2013-02-01 00:00:00
abstract::von Willebrand disease (VWD) is a bleeding disorder caused by quantitative (type 1 and 3) or qualitative (type 2) defects of von Willebrand factor (VWF). The mechanisms of most inherited VWD types have been recently elucidated by genetic and molecular diagnosis, but the phenotypic tests based on measurements of plasma...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200202000-00005
更新日期:2002-02-01 00:00:00
abstract::Slipped capital femoral epiphysis remains a diagnostic problem despite numerous papers written on the subject. The most important factor in the diagnosis of slipped capital femoral epiphysis is suspicion by the practitioner. The history, physical examination, and radiographic imaging are important in the confirmation ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199902000-00016
更新日期:1999-02-01 00:00:00
abstract::In the past decade a number of studies have systematically addressed the questions that existed regarding optimal ways to rehydrate and then refeed infants and children with diarrhea. Two very thorough papers are the highlights of the past year's publications in the topic of acute gastroenteritis in children. One summ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199710000-00010
更新日期:1997-10-01 00:00:00
abstract::Advances in pediatric anesthesia can contribute to improved care of children in other environments. As an example, drugs and dosages established in preoperative sedation of children provide a base for their application in sedation and pain relief of children undergoing painful procedures in the emergency unit, oncolog...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199306000-00011
更新日期:1993-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Enteroviruses cause a wide variety of diseases with neurologic, respiratory, skin, and gastrointestinal findings. The purpose of this review is to clarify changes in the classification of enteroviruses, provide information about recent disease outbreaks, and to summarize progress toward the treatment ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000303
更新日期:2016-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The diagnostic approach to children with possible appendicitis remains challenging. Although advances in imaging have improved diagnostic accuracy over clinical judgment alone, new management strategies continue to evolve. This review serves as an update on imaging, biomarkers, and management of appen...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32834604da
更新日期:2011-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Recognizing inflammatory bowel disease (IBD) is straightforward when alarm symptoms are present, such as bloody diarrhea and weight loss. When the presentation is subtle or atypical, physicians must determine which patients warrant evaluation for IBD. Appropriate use of noninvasive tests can help iden...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32830d3aaf
更新日期:2008-10-01 00:00:00
abstract::Nocturnal enuresis is a common problem occurring in 15% of children at 5 years of age. Although usually self-limiting, justification for early treatment is founded in the psychological impact on the child. The physician's role in treating enuresis is first to rule out structural causes for enuresis. After this has bee...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199404000-00012
更新日期:1994-04-01 00:00:00
abstract::Treatment of patients with anorexia nervosa is a topic that continues to spark debate. Two particular areas of controversy include the role of exercise and the use of selective serotonergic reuptake inhibitors (SSRI). Few randomized controlled trials have addressed these two issues. The psychological impact of exercis...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200306000-00022
更新日期:2003-06-01 00:00:00
abstract::The sustained improvements in pediatric cancer therapy are partially due to the large randomized and nonrandomized studies being conducted by multidisciplinary cooperative groups. Theoretic concepts of chemotherapy are better knowledge of the pharmacokinetics, pharmacodynamics, and drug resistance of current and new d...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199302000-00019
更新日期:1993-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Despite advances in medical care, preterm birth and its associated racial/ethnic disparities remain major public health issues. Environmental exposures may contribute to racial disparities in preterm birth. RECENT FINDINGS:Recent work in Iran demonstrated lead levels less than 10 μg/dl to be associat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328344568f
更新日期:2011-04-01 00:00:00
abstract:PURPOSE OF REVIEW:The current review addresses the importance of the prospective cohort design in large, unselected populations starting early in life for understanding the origins of childhood health disorders. RECENT FINDINGS:Cohort studies originating in healthy populations have contributed to great advances in hea...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000596
更新日期:2018-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Disorders of hemostasis such as hemophilia, von Willebrand disease (VWD), and other clotting protein deficiencies lead to significant morbidity in the pediatric population. Because of the limitations of current treatment options, novel therapies are being developed, many of which are reviewed here. R...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835bf77e
更新日期:2013-02-01 00:00:00
abstract::Major advances in the genetic understanding of the limb-girdle (LGMD) and congenital (CMD) muscular dystrophies have led to a new, genetically based classification of these disorders. The definition of the complex of dystrophin-associated proteins on a biochemical and subsequently genetic level has greatly accelerated...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:1996-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This study will outline recent advances in echocardiography and their impact in the understanding of cardiac morphology and ventricular function. RECENT FINDINGS:Evaluation of morphologic abnormalities in pediatric cardiology has benefited greatly from three-dimensional echocardiography, particularly...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32832ff38e
更新日期:2009-10-01 00:00:00
abstract::Three main factors are needed for an infant to develop allergy: allergen exposure, a genetic predisposition, and contributory factors. Recent literature suggests that the incidence of in utero sensitization might have been underestimated up to now. A number of papers provide evidence that atopic dermatitis should be r...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199310000-00009
更新日期:1993-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The present coronavirus disease 2019 (COVID-19) pandemic has created additional challenges with an increased number of presumed healthy, full-term newborns being discharged at 24 h after delivery. Short lengths of stay raise the possibility of mother-infant dyads being less ready for discharge, define...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000931
更新日期:2020-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Environmental factors, such as drugs, chemicals, or abnormal concentrations of natural metabolites, induce birth defects. Environmental effects on cardiogenesis have been little studied in contrast to neurogenesis. This review presents evidence on three environmental factors: alcohol, the drug lithium...
journal_title:Current opinion in pediatrics
pub_type: 社论,评审
doi:10.1097/MOP.0b013e32833e2723
更新日期:2010-10-01 00:00:00
abstract:PURPOSE OF REVIEW:To review recent advances in severe congenital neutropenia (SCN) syndromes. RECENT FINDINGS:The majority of patients with SCN bear monoallelic mutations in the neutrophil elastase (ELANE) gene. Biallelic mutations in the antiapoptotic gene HAX1 were identified in patients with autosomal recessive SCN...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32834262f8
更新日期:2011-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Acne vulgaris remains one of the most common conditions affecting adolescents. The pediatric practitioner is the first to evaluate adolescent acne, making familiarity with the condition and its management essential. This review covers some of the recent literature regarding acne to help practitioners ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328305e273
更新日期:2008-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Ras pathway mutations are one of the most common type of alterations in pediatric hematologic malignancies and are frequently associated with adverse outcomes. Despite ongoing efforts to use targeted treatments, there remain no Food and Drug Administration (FDA)-approved medications specifically for c...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章
doi:10.1097/MOP.0000000000000981
更新日期:2021-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. Early and appropriate recognition and treatment of hypoglycemia is vital to minimize neurocognitive impairment. RECENT FINDINGS:There are at least 11 known monogenic forms of hyperinsulinism and se...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000645
更新日期:2018-08-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide a comprehensive review of complementary and alternative medicine (CAM) treatments for children and adolescents with attention deficit hyperactivity disorder (ADHD). RECENT FINDINGS:Many parents of children with ADHD are reluctant to pursue medication options and unable to access behavioral...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835a1a5f
更新日期:2012-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Abdominal wall defects comprising both gastroschisis and omphalocele remain a source of significant morbidity and mortality, despite the advances in neonatal and pediatric surgical care. Survival has improved over the past few decades, especially with parenteral nutrition and surgical repair. Yet, sti...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282ffdc1e
更新日期:2008-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Altered epigenetics is central to oncogenesis in many pediatric cancers. Aberrant epigenetic states are induced by mutations in histones or epigenetic regulatory genes, aberrant expression of genes regulating chromatin complexes, altered DNA methylation patterns, or dysregulated expression of noncodin...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000867
更新日期:2020-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Anemia and thrombocytopenia are the most common hematological problems in neonates. Red blood cell (RBC) and platelet transfusions are the mainstays of therapy, but data to guide neonatal transfusion practices have been sparse. Recombinant hematopoietic growth factors represent another therapeutic alt...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32834ee5cc
更新日期:2012-02-01 00:00:00
abstract::This review highlights advances in our understanding of the genetic basis for alopecia areata. New findings in trichothiodystrophy, Bazex syndrome, and Netherton's syndrome are also discussed. Finally, abnormalities of the hair, such as atrophic midline bald patches, generalized follicular hamartoma, and loose anagen ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199608000-00013
更新日期:1996-08-01 00:00:00
abstract:PURPOSE OF REVIEW:In many United States households, there are many substances used to control the exposure of our children to mosquitoes, mice and rats. This review provides information on common mosquito repellents and rodenticides used in households and discusses their toxicity, in order to help pediatricians better ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000193273.54742.6f
更新日期:2006-04-01 00:00:00