Abstract:
PURPOSE OF REVIEW:Infantile spasms, mental retardation, autism, and dystonia represent disabling diseases for which little etiologic information is available. Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients. RECENT FINDINGS:Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation. Patients with these aforementioned diseases and ARX mutations were not reported to have brain imaging abnormalities. In contrast, mutations in ARX mutations have also been found in X-linked lissencephaly with abnormal genitalia, which typically includes severe brain malformations (lissencephaly, agenesis of the corpus callosum, and midbrain malformations), intractable seizures, and a severely shortened lifespan. ARX knockout mice manifest defects in overall neuroblast proliferation as well as selective abnormalities in gamma-aminobutyric acid-ergic interneuron migration. Consistent with these findings in mice, phenotype/genotype studies in humans suggest that truncating mutations cause X-linked lissencephaly with abnormal genitalia, and insertion/missense mutations result in epilepsy and mental retardation without cortical dysplasia. SUMMARY:Mutations in the homeobox gene, ARX, cause a diverse spectrum of disease that includes cognitive impairment, epilepsy, and in another group of patients severe cortical malformations. Although the precise prevalence of ARX mutations is unclear, ARX may rival Fragile X as a cause of mental retardation and epilepsy in males.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Sherr EHdoi
10.1097/00008480-200312000-00004keywords:
subject
Has Abstractpub_date
2003-12-01 00:00:00pages
567-71issue
6eissn
1040-8703issn
1531-698Xpii
00008480-200312000-00004journal_volume
15pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:Lyme disease, caused by Borrelia burgdorferi, is the most common vector-borne illness in the United States. The pathogenesis, ecology, and epidemiology of Lyme disease have been well described, and antimicrobial treatment is very effective. There has been controversy about whether infection can persis...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000167
更新日期:2015-02-01 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::Medical informatics is both a science, which seeks to understand the information requirements of medical practice, research, and education, and an engineering discipline, which applies new technologies to help manage the explosion of data and new knowledge that confront contemporary physicians. Computerization of the ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 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:In September 2019, the United States was at risk of losing measles elimination status due to several large-scale outbreaks resulting in more than 1200 confirmed cases across 31 states. This resurgence caps approximately 10 years of increasing incidence, marked by a highly publicized outbreak in 2015 a...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000845
更新日期:2020-02-01 00:00:00
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...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200006000-00011
更新日期:2000-06-01 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:For the past 20 years, sonography of the hip has become the imaging procedure of choice to diagnose hip maturation disorders in German-speaking countries. In Austria, hip sonography is a mandatory and essential feature of preventive public health measures; the "Mutter-Kind-Pass" has been the official ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000151554.10176.34
更新日期:2005-02-01 00:00:00
abstract::This review highlights the most significant progress in treatment of constipation occurring in the last year, underlying the advances in pathophysiology, clinical presentation, diagnosis, and treatment of both organic and functional constipation. Recent developments in the field of the pathophysiology of idiopathic ch...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199810000-00011
更新日期:1998-10-01 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:Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinicall...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000541
更新日期:2017-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review will examine the current evidence regarding pediatric blunt abdominal trauma and the physical exam findings, laboratory values, and radiographic imaging associated with the diagnosis of intra-abdominal injuries (IAI), as well as review the current literature on pediatric hollow viscus inju...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328352de97
更新日期:2012-06-01 00:00:00
abstract::Acute bacterial rhinosinusitis is an infection of the nasal epithelium and paranasal sinus mucosa, usually caused in children by Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis, and, less frequently, group A Streptococcus species. The clinical diagnosis is based on daytime cough that may be wor...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200202000-00015
更新日期:2002-02-01 00:00:00
abstract::Bacterial meningitis is an important problem in childhood. Vaccines can prevent Haemophilus influenzae type b disease and are being developed for infections caused by meningococci and pneumococci. Lumbar puncture is an important part of the diagnostic workup although care is required with its use. Once meningitis is d...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199402000-00006
更新日期:1994-02-01 00:00:00
abstract:PURPOSE OF REVIEW:To review the current evidence on the use of infection markers for diagnostic evaluation of sepsis in neonates. RECENT FINDINGS:Recent research in immunology has led to the discovery of cell surface antigens, chemokines, cytokines and acute phase proteins that can potentially be used to 'rule in' or ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000193293.87022.4c
更新日期:2006-04-01 00:00:00
abstract:PURPOSE OF REVIEW:The management of displaced medial humeral epicondyle fractures in children remains controversial. The indications for surgery, the ideal surgical strategy and the implications of a painful nonunion remain unclear. RECENT FINDINGS:This article describes the state of the evidence and the art in the ma...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000707
更新日期:2019-02-01 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:Intrauterine growth restriction (IUGR) is associated with an increased propensity to develop adult-onset disease and is described by the developmental origins of adult disease hypothesis. Sequelae of fetal growth restriction include metabolic disease as well as nonmetabolic disorders. Although it has ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/mop.0b013e328326773b
更新日期:2009-04-01 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: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::This article reviews recent publications related to the epidemiology, pathogenesis, diagnosis, and management of otitis media. Otitis media is a continuum of conditions that includes acute otitis media, otitis media with residual or persistent effusion, unresponsive otitis media, recurrent otitis media, otitis media w...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199510000-00005
更新日期:1995-10-01 00:00:00
abstract:PURPOSE OF REVIEW:To summarize the recommended work-up in a child who presents with elevated blood pressure as well as innovative evaluation techniques under development. RECENT FINDINGS:'The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents' contains several ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328013f647
更新日期:2007-04-01 00:00:00
abstract::The biology of human breast milk, and the policy of encouraging breastfeeding, continue to be the object of much scientific inquiry. The past year has seen several advances in these fields of nutrition, and this article reviews some of the most interesting and pertinent studies. Four general themes have been apparent ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199906000-00020
更新日期:1999-06-01 00:00:00
abstract::Lemierre's disease, also known as 'postanginal sepsis', 'necrobacillosis', or 'internal jugular vein thrombosis', is a rare but serious emerging infection. Although Lemierre's disease remains rare, the number of reported cases has risen in recent years as more judicious antimicrobial prescribing practices for viral up...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章
doi:10.1097/MOP.0b013e3283294c5e
更新日期:2009-06-01 00:00:00
abstract:PURPOSE OF REVIEW:SARS-CoV-2 is the novel human coronavirus responsible for the COVID19 pandemic. Accurate detection of infection with SARS-CoV-2 is an essential component of efforts to treat individual patients and to contain spread of the virus in the community. The purpose of this review is to describe current diagn...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000972
更新日期:2021-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Adolescents, in particular those that are most disenfranchised, are increasingly at risk of acquiring HIV and, when acquiring HIV, have worse outcomes than adults. This article reviews the recent approaches to combination prevention aiming to optimize the HIV prevention and HIV treatment continua. RE...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000580
更新日期:2018-02-01 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::A 10-month-old infant with multiple infantile hepatic hemangiomas and developmental delay is reported. He was found to be profoundly hypothyroid. Evaluation and management issues are discussed. This case emphasizes the importance of screening for hypothyroidism in patients with hemangiomas and the potential therapeuti...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章
doi:10.1097/MOP.0b013e3282f409c3
更新日期:2008-04-01 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::Increasing levels of stress in the daily lives of adolescents is an important health concern. Adolescents experience a variety of stressful situations and use a wide range of coping strategies to help effectively manage stress. Recent research on adolescent coping with stressful situations is reviewed. Findings suppor...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200308000-00005
更新日期:2003-08-01 00:00:00