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 large field of MR into categories that may help professionals in making a diagnosis. Nonspecific MR can also segregate in families and the mapping and cloning of corresponding mutant genes will eventually advance our understanding of normal and abnormal brain functioning. Several genes responsible for nonspecific X-linked mental retardation have been identified in the last 12 to 24 months and are being intensively investigated. This will hopefully lead to new possibilities of either genetic or pharmacological therapy.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Chiurazzi P,Oostra BAdoi
10.1097/00008480-200012000-00003keywords:
subject
Has Abstractpub_date
2000-12-01 00:00:00pages
529-35issue
6eissn
1040-8703issn
1531-698Xjournal_volume
12pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:The HIV/AIDS epidemic is one of the most widespread public health problems today. Teens with mental health concerns are particularly vulnerable to infection because they engage in higher rates of risky behaviors than their peers. Families are vital influences in protecting teens from HIV exposure, but...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000245356.68207.d2
更新日期:2006-10-01 00:00:00
abstract:PURPOSE OF REVIEW:There are an expanding number of therapies available to treat pediatric inflammatory bowel disease (IBD). As pediatric gastroenterologists attempt to achieve complete intestinal mucosal healing for their patients, it has become more important to gain an understanding of how to maximize the efficacy of...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000393
更新日期:2016-10-01 00:00:00
abstract:PURPOSE OF REVIEW:A second-generation 13-valent pneumococcal conjugate vaccine (PCV13) was licensed and recommended for universal immunization of children through age 5 years in 2010. Its introduction is intended to address the residual burden of pneumococcal diseases that persists a decade after the introduction of PC...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328341d1f5
更新日期:2011-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Increasing numbers of children are now traveling to high-altitude destinations, and pediatricians often see these children prior to and immediately following their travels. Thus, pediatricians have the opportunity to provide guidance for the prevention of altitude illness and must treat high-altitude ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000519
更新日期:2017-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Idiopathic nephrotic syndrome in children is commonly associated with minimal change disease and response to steroid therapy. Steroid-unresponsive nephrotic syndrome is often characterized by persistent proteinuria and progression to chronic kidney disease. Focal segmental glomerulosclerosis is the le...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282f4e6e4
更新日期:2008-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Hypertension is an independent risk factor for progression of chronic kidney disease (CKD) in children. Children with early CKD develop hypertension secondary to renal disease. This review aims to highlight recent advances that help us better understand the current role of hypertension in progression ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000595
更新日期:2018-04-01 00:00:00
abstract::Prevention of injuries to child passengers is a significant public health priority, as motor vehicle-related injuries remain a leading cause of death for children. Improvements in child restraint use have contributed to significant declines in child occupant mortality rates over the past 20 years. However, although ov...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199912000-00020
更新日期:1999-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review highlights recent publications on the use of the Internet as it relates to pediatric primary care, including its application to the pediatrician, teen, pediatric patient, and patients' parents. A brief overview of early work is introduced. RECENT FINDINGS:The Internet has become a tool to...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328331e7b4
更新日期:2009-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Neonatal erythroderma is a potentially life-threatening condition in neonates less than 1 month old. During the first month of life, erythroderma is generally a presentation of genodermatosis, primary immune deficiency, or, more exceptionally, severe psoriasis, metabolic disease or infection. Atopic e...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32833bc396
更新日期:2010-08-01 00:00:00
abstract::The major advance in knowledge about rotavirus infection and prevention has been in vaccine development. Several large studies of tetravalent rhesis rotavirus vaccine have had encouraging results, and a first-generation vaccine is likely to be licensed by the 25th anniversary of the discovery of rotavirus (in 1973). E...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199702000-00006
更新日期:1997-02-01 00:00:00
abstract::Advances related to thyrotropin during 1999 included better understanding of the genetic basis of pituitary development and genetic advances in identifying clinical entities and their mechanisms and enabling new therapies. Initial clinical use of recombinant thyrotropin in evaluation of thyroid cancer recurrence was d...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200008000-00017
更新日期:2000-08-01 00:00:00
abstract::Large and unusually large von Willebrand factor (vWf) multimers may be responsible for systemic platelet aggregation in thrombotic thrombocytopenic purpura (TTP). This possibility is supported by studies that show deficient vWf-cleaving metalloproteinase and increased platelet-vWf binding during TTP episodes. In acute...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200002000-00005
更新日期:2000-02-01 00:00:00
abstract:PURPOSE OF REVIEW:To emphasize an exploration of mechanisms of kidney stone disease based on a molecular understanding of excess urinary excretions of calcium, oxalate, cystine, and uric acid. RECENT FINDINGS:Hypercalciuria is discussed relative to mutations in the renal chloride genes CLCN5 and CLCNKB, WNK kinases, A...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200404000-00013
更新日期:2004-04-01 00:00:00
abstract::Stachybotrys is a toxin-producing fungus that grows indoors when both water and cellulose are available. Epidemiologic evidence has demonstrated an association between acute pulmonary hemorrhage in infants and exposure to Stachybotrys and other fungi in water-damaged home environments. In recent years, advances in und...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200302000-00017
更新日期:2003-02-01 00:00:00
abstract::The atopic diseases of childhood consist of the triad of asthma, allergic rhinitis, and atopic dermatitis. All share a common pathogenesis, being mediated by IgE, and are frequently present together in the same individual and family. These disorders and their comorbidities comprise a large component of general pediatr...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200210000-00012
更新日期:2002-10-01 00:00:00
abstract::The biology of the X chromosome is unique, as there are two Xs in females and only a single X in males, whereas the autosomes are present in duplicate in both sexes. The presence of only a single autosome, which can occur as a result of an error in meiotic segregation, is invariably an embryonic lethal event. Monosomy...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200108000-00010
更新日期:2001-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The delineation of syndromes carrying a predisposition to malignancy has led to great insights into the molecular biology of malignancy. Many such syndromes have cutaneous findings which can precede the development of neoplasia. Early recognition of the cutaneous stigmata of the genodermatoses with ma...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282495939
更新日期:2007-08-01 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:The purpose of this review is to examine the prevalence of vitamin D deficiency in pediatric gastrointestinal disease, specifically celiac disease and inflammatory bowel disease (IBD); to discuss the role of vitamin D and its deficiency in gastrointestinal disease pathophysiology; and to present curre...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000451
更新日期:2017-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Tobacco use and secondhand tobacco smoke exposure of children are a significant problem faced by pediatricians. This article reviews the recommendations of the 2008 update of the guideline Treating Tobacco Use and Dependence and their application in the pediatric setting. RECENT FINDINGS:Every tobacc...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/mop.0b013e328317f1d2
更新日期:2008-12-01 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:Major advances in our understanding of the genetic basis of neuroblastoma, and the role somatic alterations play in driving tumor growth, have led to improvements in risk-stratified therapy and have provided the rationale for targeted therapies. In this review, we highlight current risk-based treatmen...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000296
更新日期:2016-02-01 00:00:00
abstract:PURPOSE OF REVIEW:To familiarize primary care pediatricians with basic detection and treatment strategies of lower extremity stress fractures, while highlighting new research related to improving diagnosis and management approaches for pediatric and adolescent athletes. RECENT FINDINGS:Young age appears to be a risk f...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282f370c0
更新日期:2008-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Recently, recommendations from the American Heart Association regarding treatment of streptococcal tonsillo-pharyngitis were revised. This review provides the background for changes that were made in comparison with the group's 1995 recommendations. Recent papers on other issues relating to group A St...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32833502e7
更新日期:2010-02-01 00:00:00
abstract::Dietary long-chain polyunsaturated fatty acids have demonstrable beneficial effects on early development. The effects on neural development are of particular interest. Human milk is the best and only time-proven source of fat and essential fatty acids in the infant diet. Technologic procedures based on chemical and ph...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199904000-00003
更新日期:1999-04-01 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: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:PURPOSE OF REVIEW:This article reviews the importance of appropriate developmental surveillance in early childhood, what is known about its effectiveness in current pediatric practice, and ways in which its delivery can be improved to optimize child outcomes. RECENT FINDINGS:Many infants and young children with develo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200312000-00014
更新日期:2003-12-01 00:00:00
abstract::Traditionally, family members were excluded from viewing invasive procedures and cardiopulmonary resuscitation in the pediatric emergency department. The concept of family-centered care in the emergency department has now become more widespread. Consequently, family member presence during routine invasive procedures s...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200306000-00012
更新日期:2003-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Nonaccidental trauma and neglect continue to be major problems for children, families, and the providers who care for them. Whereas prevention is the key to ending child abuse and neglect, diagnosis and treatment continue to be the mainstays of practice. This article will briefly review the epidemiolo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200404000-00022
更新日期:2004-04-01 00:00:00