ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Following critical hypoxia-ischemia during labor and delivery, there is a window of therapeutic opportunity during hypoxic-ischemic encephalopathy.Meta-analysis of three randomized trials of prophylactic barbiturate therapy for neonatal hypoxic-ischemic encephalopathy showed no significant effect on death or disability. One randomized trial of allopurinol showed short-term benefits but was too small to test death or disability. No adequate trials of dexamethasone, calcium channel blockers, or magnesium sulphate have yet been completed, but pilot studies in infants have shown the cardiovascular risks of magnesium sulphate and calcium channel blockers. There is considerable evidence from animal studies that posthypoxic mild hypothermia reduces brain injury. One small randomized trial of mild hypothermia found no adverse effects but was too small to examine death or disability. One large randomized trial of selective head cooling has finished recruitment and a number of large trials of systemic mild hypothermia are ongoing. As time is critical with post-hypoxic interventions, the delay involved in obtaining informed parental consent for such trials might obscure a clinically important therapeutic effect.

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Children are a uniquely vulnerable population, yet there is an overwhelming need to test safety and efficacy of therapies and preventions in the pediatric population. Results from studies in adults do not provide sufficient or accurate information. Recently, the need for research involving children has been recognized and action has been taken at the federal level to address both the need for pediatric research and the protection of the welfare and rights of children as research subjects. Other ethical and legal issues such as privacy and confidentiality of information are being addressed as well.

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Chromosome 22q11.2 deletion syndrome occurs in approximately 1 of 3000 children. Clinicians have defined the phenotypic features associated with the syndrome and the past 5 years have seen significant progress in determining the frequency of the deletion in specific populations. As a result, caregivers now have a better appreciation of which patients are at risk for having the deletion. Once identified, patients with the deletion can receive appropriate multidisciplinary care. We describe recent advances in understanding the genetic basis for the syndrome, the clinical manifestations of the syndrome, and new information on autoimmune diseases in this syndrome.

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Treatment of chronic arthritis in childhood is progressing quickly. Nonsteroidal antiinflammatory drugs still remain mainstays of treatment, but weekly methotrexate and intra-articular corticosteroid injections have made the biggest impact on disease control. Recently, tumor necrosis factor inhibitors have become available for the treatment of chronic childhood arthritis and have already had a substantial influence on disease activity. Very aggressive measures are still reserved for the sickest children who do not respond to conventional therapy, but the future for children with chronic arthritis looks bright with newer, highly targeted biologic therapies in the pipeline.

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Holt-Oram syndrome is an autosomal-dominant condition characterized by congenital cardiac and forelimb anomalies. It is caused by mutations of theTBX5gene, a member of the T-box family that encodes a transcription factor. Molecular studies have demonstrated that mutations predicted to create null alleles cause substantial abnormalities in both the limbs and heart, and that missense mutations ofTBX5can produce distinct phenotypes. One class of missense mutations causes significant cardiac malformations but only minor skeletal abnormalities; others might cause extensive upper limb malformations but less significant cardiac abnormalities. Intrafamilial variations of the malformations strongly suggest that genetic background or modifier genes play an important role in the phenotypic expression of HOS. Efforts to understand the intracellular pathway ofTBX5would provide a unique window onto the molecular basis of common congenital heart diseases and limb malformations.

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

In 2001, scientists characterized the first gene to be implicated in the cause of a speech and language disorder (FOXP2). AlthoughFOXP2was discovered using a unique family in which a severe speech and language disorder segregates in a monogenic fashion, at the time this discovery was heralded as “a milestone in understanding this uniquely human characteristic.” Approximately 1 year later, we discuss the impact of this gene discovery on the study of language and review the relevance of this gene to both specific language impairment and language aspects of the autistic phenotype. We also discuss recent molecular genetic advances made in the study of generalized specific language impairment.

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed. Recent papers exploring newer and less well-delineated areas of cofactor supplementation and genetic and epigenetic modification of the genotypic expression are presented. The excitement surrounding the continued exploration of the hyperphenylalaninemias is emphasized.

ISSN:1040-8703    

出版商:OVID    

年代:2002

数据来源: OVID