Abstract:
PURPOSE OF REVIEW:Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder involving benign growths in multiple organ systems of affected patients. Variable phenotypes from mild to severe have been reported for related as well as unrelated patients affected by TSC. The two causative genes, TSC1 and TSC2, which code for hamartin and tuberin respectively, play central roles in regulating cell survival and proliferation signaling pathways. The severity of disease phenotypes of TSC patients is influenced by the activities of genes both up and down-stream in the associated pathways. RECENT FINDINGS:The high-expressing12CA repeat variant of the IFNG gene was suggested to contribute lower risk for kidney angiomyolipomas in patients with TSC2 gene mutations. Genetic modifiers for TSC have been localized on chromosomes 3 and 5 of the rat genome. We performed association studies linking the c.68C allele of the 5-hydroxytryptamine receptor 2C gene to lower seizure risk in TSC-affected individuals. SUMMARY:Genetic and epigenetic factors affecting the activity of each and every interacting partner of the tuberin-hamartin complex could potentially alter the disease presentation. Identifying functional polymorphic variants of interacting partners affecting TSC gene functions will delineate the mechanisms leading to TSC disease severity, ultimately resulting in treatment strategies.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Au KS,Ward CH,Northrup Hdoi
10.1097/MOP.0b013e328318c529subject
Has Abstractpub_date
2008-12-01 00:00:00pages
628-33issue
6eissn
1040-8703issn
1531-698Xpii
00008480-200812000-00003journal_volume
20pub_type
杂志文章,评审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
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abstract:PURPOSE OF REVIEW:Acetaminophen poisoning accounts for a disproportionate percentage of all toxic ingestions, and can be life-threatening. This article reviews the mechanism and presentation of acetaminophen toxicity, as well as its treatment, including current thinking and treatment recommendations. RECENT FINDINGS:N...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000152622.05168.9e
更新日期:2005-04-01 00:00:00
abstract::This paper reviews recent studies of attention deficit-hyperactivity disorder, focusing on research with implications for adolescents. Only 10 of the 31 recent investigations discussed employed an exclusively adolescent sample, necessitating considerable extrapolation from studies of children or adults or mixed sample...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199608000-00003
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abstract::Disruptive behavior disorders present grave complications to normal childhood development. Their presence is frequently associated with additional psychiatric disorders. The hallmark features of the disruptive behavior disorders range from noncompliance to aggressive hostility toward authorities or peers. Oppositional...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199708000-00007
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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:PURPOSE OF REVIEW:We review recommendations from recent publications on the management of fever with antipyretics, the classification and diagnosis of fevers of unknown origin (FUO), and the evaluation of fever in infants under 90 days of age. RECENT FINDINGS:Anxiety about fever persists in the population, while the t...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835333e3
更新日期:2012-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Osteogenic sarcoma, also known as osteosarcoma, is a primary malignancy of the bone in which spindle cells produce osteoid. Although rare in the general population, these tumors are the most common primary malignancies of bone and the fifth most common primary malignancy of adolescence. This paper aim...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328334581f
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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
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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更新日期:2007-04-01 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
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doi:10.1097/00008480-200202000-00015
更新日期:2002-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Atypical skull shapes occur in as many as 20% of infants. The purpose of this review is to discuss the clinical approach to the evaluation of a child with an abnormal head shape. Readers will learn how to identify the head shapes caused by environmental deformation and craniosynostosis. We also review...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282f1581a
更新日期:2007-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Urinary tract infections are the most common serious bacterial infections in infants and young children. This review focuses on new additions to the literature for the period August 22, 2002, to August 21, 2003. RECENT FINDINGS:There is still considerable interest in determining which test is best to...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200402000-00016
更新日期:2004-02-01 00:00:00
abstract::A careful history and physical examination will help to differentiate between encopresis with or without constipation and fecal incontinence caused by anatomic or organic disease. Most children with encopresis with or without functional constipation require no or minimal laboratory workup. Successful treatment of enco...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200210000-00002
更新日期:2002-10-01 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
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000489
更新日期:2017-06-01 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
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32833a468e
更新日期:2010-08-01 00:00:00
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199810060-00011
更新日期:1998-12-01 00:00:00
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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更新日期:2006-02-01 00:00:00
abstract:PURPOSE OF REVIEW:This article reviews recent developments in the assessment of changes in structure and function in the fetal heart with the focus on congenital heart disease malformations. RECENT FINDINGS:Use of the combination of the cardiovascular profile score, the biophysical profile score and additional physiol...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282efd2a2
更新日期:2007-10-01 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
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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更新日期:2001-12-01 00:00:00
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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更新日期:2020-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The purpose of this review is to present an overview of sport-related concussion in the young athlete and review recent publications of clinical and scientific importance. RECENT FINDINGS:Recent findings show that young athletes are more susceptible to concussions than older athletes and more likely ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000236385.26284.ec
更新日期:2006-08-01 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