Abstract:
:Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-Hünermann-Happle type chondodysplasia punctata and its mouse homologs, and the Greenberg "moth-eaten" skeletal dysplasia and the CHILD syndrome. Many other defects in this pathway remain to be discovered.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Opitz JMdoi
10.1097/00008480-199908000-00015keywords:
subject
Has Abstractpub_date
1999-08-01 00:00:00pages
353-62issue
4eissn
1040-8703issn
1531-698Xjournal_volume
11pub_type
杂志文章,评审abstract::Risk factors for infant development are considered in three areas: infant temperament, postpartum depression, and prenatal cocaine exposure. Investigations of all three areas indicate that contextual characteristics of infant development must be incorporated into models attempting to link early risk factors with later...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199408000-00009
更新日期:1994-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Juvenile myasthenia gravis is a relatively rare autoimmune neuromuscular disorder. The pathophysiology of juvenile myasthenia gravis is similar to that of adult myasthenia gravis, though there remain important differences regarding presentation and therapeutic options. We review the pathophysiology, c...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328365ad16
更新日期:2013-12-01 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:To discuss the significance of studies published over the previous year regarding the pathogenesis and treatment of atopic dermatitis, including prevention, skin care, environmental modifications, nutrition, education, and anti-inflammatory medications. RECENT FINDINGS:Recent evidence shows that 42.5...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32832130a9
更新日期:2009-02-01 00:00:00
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 ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200312000-00004
更新日期:2003-12-01 00:00:00
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...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e328318c529
更新日期:2008-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Prenatal genetic screening and diagnostic testing can identify many disorders that will require specialized newborn care and follow-up. Pediatricians should be aware of recent advances in testing that may have implications for their patients and families. RECENT FINDINGS:Over the last half decade, th...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32833f5f6e
更新日期:2010-12-01 00:00:00
abstract:PURPOSE OF REVIEW:This review summarizes for the pediatrician the current understanding of normal cerebellar and brainstem development, and then discusses selected malformations to highlight advances in the area. The impact of prematurity on cerebellar growth and development is then examined. The important insights pro...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32801080e8
更新日期:2006-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The purpose of this review is to describe current concepts on inflammation, immunity and insulin resistance. Metabolic and immune systems are closely involved in inflammation and significantly contribute to the pathology seen in the pediatric intensive care unit. The ability of insulin to decrease hep...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3283464b3e
更新日期:2011-06-01 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::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: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: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::A rapidly accelerating number of transplantations of hematopoietic stem cells from human umbilical cord blood have been performed for malignancies and for congenital disorders. Umbilical cord blood presents multiple advantages over bone marrow as a source of stem cells. Harvesting presents no donor risk or discomfort,...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199602000-00007
更新日期:1996-02-01 00:00:00
abstract::Outcomes for infants with gastroschisis have paralleled advances made in neonatal intensive care and the use of parenteral nutrition. Mortality rates approaching 100% a half century ago are now closer to 2% to 8%. Further reduction in morbidity has been the focus of many studies during the past decade. Efforts have be...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200306000-00002
更新日期:2003-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The purpose of this article is to present an overview of the state of breastfeeding in the United States and to examine recent evidence for strategies aimed at optimizing successful breastfeeding in the neonatal period. RECENT FINDINGS:Although rates of any and exclusive breastfeeding are rising, Ame...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32832b325a
更新日期:2009-06-01 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: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:PURPOSE OF REVIEW:Enhanced recovery protocols (ERPs) have been adopted for a variety of adult surgical conditions and resulted in markedly improved outcomes, including decreased length of stays, complications, costs, and narcotic utilization. In this review, we describe the development and implementation of an ERP for ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000622
更新日期:2018-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim of this review is to summarize the recent literature investigating nonoperative management of uncomplicated and complicated appendicitis and highlight recent data establishing its safety and efficacy. RECENT FINDINGS:Recent studies and clinical trials have demonstrated the efficacy of nonoper...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000487
更新日期:2017-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The purpose of this review is to summarize recent research regarding the diagnosis of allergic rashes and to suggest future directions for the promotion of accurate diagnosis and endotype specification. RECENT FINDINGS:Multiple cohort studies demonstrate that with appropriate clinical evaluation, dru...
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::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: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
abstract:PURPOSE OF REVIEW:Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning. This review summarizes current genetic testing options along with their potential benefits and limitations. We also describe results from large-...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000815
更新日期:2019-12-01 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::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:Childhood malnutrition is a major global health issue. It is often thought of as a developing world problem and therefore, underdiagnosed or misdiagnosed in developed countries. The delay in diagnosis and treatment can lead to increased morbidity and mortality. Cutaneous manifestations are often the i...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000652
更新日期:2018-08-01 00:00:00
abstract::Miniaturization of echocardiographic transducers, improved crystal technology, and enhanced digital processing of ultrasound signals have resulted in newer, more sophisticated equipment and imaging techniques. These technologic advances include transesophageal echocardiography, stress echocardiography (both pharmacolo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199510000-00015
更新日期:1995-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The current article highlights recent developments in the field of pediatric cutaneous mastocytosis. Mastocytosis is a spectrum of conditions that range from fleetingly benign to aggressively malignant. Through recognizing the natural progression of disease, the role of biomarkers and mutational analy...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000922
更新日期:2020-08-01 00:00:00
abstract::Cerebral palsy is caused by a static lesion to the cerebral motor cortex that is acquired before, at, or within 5 years of birth. Multiple causes for the condition exist and include cerebral anoxia, cerebral hemorrhage, infection, and genetic syndromes. Cerebral palsy is commonly classified according to the type of mo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199702000-00017
更新日期:1997-02-01 00:00:00