Abstract:
PURPOSE OF REVIEW:To illustrate potential risks and benefits of disease screening for newborns using the example of Duchenne muscular dystrophy. RECENT FINDINGS:There is a wide range in the reported positive predictive value for screening male newborns for Duchenne muscular dystrophy by the creatine kinase level on dried blood spots. Some parental anxiety is associated with both early detection and false-positive screening results. No data are available about the impact of the diagnosis on the child, including the impact of early initiation of therapy. Studies suggest that few parents change their future reproductive planning based on identification of Duchenne muscular dystrophy through screening. Few data are available regarding the cost of newborn screening for Duchenne muscular dystrophy, and there are insufficient data to evaluate the cost-effectiveness of Duchenne muscular dystrophy screening. SUMMARY:Available data are insufficient to recommend routine newborn screening for Duchenne muscular dystrophy. Understanding the gaps in knowledge provides insight into the evidence needed to recommend newborn screening for Duchenne muscular dystrophy. Studies are needed to evaluate the potential risks and benefits of screening, including the associated incremental costs.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Kemper AR,Wake MAdoi
10.1097/MOP.0b013e3282f19f65subject
Has Abstractpub_date
2007-12-01 00:00:00pages
700-4issue
6eissn
1040-8703issn
1531-698Xpii
00008480-200712000-00017journal_volume
19pub_type
杂志文章,评审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::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
abstract:PURPOSE OF REVIEW:This paper reviews recent publications about the physiology associated with adaptation to malnutrition and refeeding (including the refeeding syndrome) and clinical outcomes of refeeding paradigms. RECENT FINDINGS:A number of recent reviews and original publications have highlighted important differe...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3283487591
更新日期:2011-08-01 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::Guidelines are an increasingly prominent part of the practice of pediatrics. Aiming from studies of variability in care, they are widely used as a mechanism to assess and improve quality. Rigorous methods of guideline development differentiate current guidelines from past consensus efforts. The American Academy of Ped...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199610000-00002
更新日期:1996-10-01 00:00:00
abstract:PURPOSE OF REVIEW:A brief delay in clamping the umbilical cord after birth offers health benefits to the newborn, with no adverse effects to the mother or her infant. Yet, in most obstetric practice, the cord is clamped soon after birth. A summary of the current evidence on delayed cord clamping and some reasons for th...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835d2a9e
更新日期:2013-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Pediatric-onset multiple sclerosis (MS) is increasingly recognized. Conversely, MS diagnosis in the pediatric population continues to be challenging, particularly in the youngest group of patients. An interesting amount of data has been recently published concerning immunopathogenesis, environmental f...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3283402b8a
更新日期:2010-12-01 00:00:00
abstract::Smoking prevention during childhood and adolescence is critical to the successful reduction of tobacco-related morbidity and mortality in the United States. The research literature is replete with surveys describing youth smoking acquisition and related factors. In addition to its direct harm, tobacco use may be a gat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199706000-00006
更新日期:1997-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Screening, brief intervention and referral to treatment (SBIRT) offers a practical, integrated model for addressing substance use in primary care settings. This review provides an update of the research on SBIRT for adolescents in primary care, examines current dissemination challenges and suggests fu...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000371
更新日期:2016-08-01 00:00:00
abstract::Surfactant therapy has revolutionized neonatal care and is used routinely for preterm infants with respiratory distress syndrome. Recent investigation has further elucidated the function of surfactant-associated proteins and their contribution toward surfactant and lung immune defense functions. As the field of neonat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200304000-00002
更新日期:2003-04-01 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::Preimplantation genetic diagnosis now represents an alternative reproductive option for parents at high risk of having offspring affected with certain genetic diseases. Progress in the past year has included increasing reliability in embryo sexing by both polymerase chain reaction and fluorescent in situ hybridization...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199412000-00018
更新日期:1994-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Describe developments in the etiological understanding of Tourette syndrome. RECENT FINDINGS:Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000546
更新日期:2017-12-01 00:00:00
abstract::Bone marrow transplantation has become well established in the treatment of malignant and nonmalignant disorders. Steady progress continues in improving survival after transplantation, but many problems remain to be solved. Relapsed disease is a major limitation, and new, more intensive preparative regimens are being ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199302000-00016
更新日期:1993-02-01 00:00:00
abstract:PURPOSE OF REVIEW:This study reviews the history of neonatal drug development, recent legislative efforts designed to facilitate the study of therapeutic agents in neonates, and future steps necessary to advance drug development. RECENT FINDINGS:Although many federal regulations have been introduced over the past 15 y...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000463
更新日期:2017-04-01 00:00:00
abstract:PURPOSE OF REVIEW:In fiscally challenging times, scientists must seek creative strategies and leverage existing resources to advance research. RECENT FINDINGS:This review describes programmes supported by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH) to promote resear...
journal_title:Current opinion in pediatrics
pub_type: 历史文章,杂志文章,评审
doi:10.1097/MOP.0b013e328364b8a7
更新日期:2013-10-01 00:00:00
abstract::Genetic causes account for 20% to 25% of human birth defects, but the largest proportion of birth defects have no definitive etiology and some of these malformations may be due to intrinsic, "nonpreventable" spontaneous errors of development. Environmental causes, which include maternal disease states, maternal infect...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199304000-00012
更新日期:1993-04-01 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:Diaper dermatitis is the most common cutaneous diagnosis in infants. In this review, common causes of diaper dermatitis and similarly presenting conditions will be covered, as well as updates on treatments of common diaper dermatitides. RECENT FINDINGS:There have been recent advancements in the treat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835585f2
更新日期:2012-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Atopic dermatitis, one of the most common chronic illnesses of childhood, is encountered routinely by all providers of health care to children. RECENT FINDINGS:In recent years there has been a dramatic rise in the prevalence of atopic dermatitis and therefore a rapid increase in the number of studies...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000133632.33920.dd
更新日期:2004-08-01 00:00:00
abstract:PURPOSE OF REVIEW:P450 oxidoreductase deficiency--a newly described form of congenital adrenal hyperplasia--typically presents a steroid profile suggesting combined deficiencies of steroid 21-hydroxylase and 17alpha-hydroxylase/17,20-lyase activities. These and other enzymes require electron donation from P450 oxidored...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000236395.71956.5c
更新日期:2006-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Allergic rhinitis, conjunctivitis, and asthma impact quality of life and cost billions of dollars in lost wages, productivity, and medical expenditures. Allergen immunotherapy is the only therapy that alters the allergen immune response, resulting in fewer symptoms upon natural exposure. This review s...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000267
更新日期:2015-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The goal of this review is to provide updates on the evolution of conceptual definitions as they relate to quality in healthcare, existing measurement platforms for performance benchmarking in pediatric surgery, and available tools for quality improvement that are relevant to care of the pediatric sur...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000346
更新日期:2016-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Inherited disorders of calcium and phosphate homeostasis have variable presentation and can cause significant morbidity. An understanding of the mode of inheritance and pathophysiology of these conditions will help in the diagnosis and early institution of therapy. RECENT FINDINGS:Identification of g...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章
doi:10.1097/MOP.0000000000000064
更新日期:2014-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Spastic type is the most common form of cerebral palsy. The purpose of this review was to evaluate recent literature for current trends in the surveillance and treatment of spastic hip problems in cerebral palsy. RECENT FINDINGS:Cerebral palsy is still the most common physical disability in childhood...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000040
更新日期:2014-02-01 00:00:00
abstract::Fetal cardiac intervention is in a rapid state of progress now. Attempts are being made to prevent fetal hydrops due to congenital heart defects, to recruit hypoplastic ventricles, to create a two-ventricle circulation after birth, and to remodel the fetal pulmonary vascular bed whose outlet is obstructed. Open heart ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000141918.70698.3a
更新日期:2004-10-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide clinicians with an updated overview of key considerations related to the clinical assessment and management of attention-deficit/hyperactivity disorder (ADHD) in adolescents. RECENT FINDINGS:The American Psychiatric Association's recently revised Diagnostic and Statistical Manual of Mental...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000053
更新日期:2014-02-01 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::Neurocutaneous syndromes are disorders with cutaneous and neurologic anomalies. Some of these disorders are hereditary. This review summarizes the advances in this field and the recent results obtained in clinical and scientific research on the following syndromes: neurofibromatosis type 1, tuberous sclerosis, Gorlin-...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199308000-00011
更新日期:1993-08-01 00:00:00
abstract::Autoimmune Lymphoproliferative Syndrome (ALPS) is a recently recognized disease in which a genetic defect in programmed cell death, or apoptosis, leads to breakdown of lymphocyte homeostasis and normal immunologic tolerance. Some authors have referred to ALPS as Canale-Smith syndrome or lymphoproliferative syndrome wi...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199912000-00009
更新日期:1999-12-01 00:00:00