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-scale genomic sequencing projects in pediatric and neonatal populations with a focus on clinical utility. RECENT FINDINGS:Recent advances in DNA sequencing technology have made genomic sequencing a feasible and effective testing option in a variety of clinical settings. These cutting-edge tests offer much promise to both medical providers and patients as it has been demonstrated to detect causal genetic variation in ∼25% or more of previously unresolved cases. Efforts aimed at promoting data sharing across clinical genetics laboratories and systematic reanalysis of existing genomic sequencing data have further improved diagnostic rates and reduced the number of unsolved cases. SUMMARY:Genomic sequencing is a powerful and increasingly cost-effective alternative to current genetic tests and will continue to grow in clinical utility as more of the genome is understood and as analytical methods are improved. The evolution of genomic sequencing is changing the landscape of clinical testing and requires medical professionals who are adept at understanding and returning genomic results to patients.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Neu MB,Bowling KM,Cooper GMdoi
10.1097/MOP.0000000000000815subject
Has Abstractpub_date
2019-12-01 00:00:00pages
732-738issue
6eissn
1040-8703issn
1531-698Xpii
00008480-201912000-00008journal_volume
31pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:Nonalcoholic fatty liver disease is a common condition that may progress to end stage liver disease. It is closely associated with obesity and insulin resistance, two conditions whose prevalence is increasing dramatically in children. This could potentially make nonalcoholic fatty liver disease the mo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/01.mop.0000172816.79637.c5
更新日期:2005-10-01 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:PURPOSE OF REVIEW:Extremely low gestational age newborns (ELGANs), born at less than 28 weeks' estimated gestational age, suffer the greatest consequences of prematurity. There have been significant advances in their care over the last several decades, but the prospects for major advances within traditional treatment m...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000083
更新日期:2014-06-01 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: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:Continuous glucose monitoring (CGM) is increasingly used in the management of diabetes in children and adults, but there are few data regarding its use in neonates. The purpose of this article is to discuss the potential benefits and limitations of CGM in neonates. RECENT FINDINGS:Smaller electrodes ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000592
更新日期:2018-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Nonaccidental trauma and neglect continue to be major problems for children, families, and the providers who care for them. Whereas prevention is the key to ending child abuse and neglect, diagnosis and treatment continue to be the mainstays of practice. This article will briefly review the epidemiolo...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200404000-00022
更新日期:2004-04-01 00:00:00
abstract:PURPOSE OF REVIEW:To highlight studies that have contributed significantly to our current knowledge of inhaled glucocorticoids in childhood asthma. RECENT FINDINGS:In 2006, three important studies were published that investigated whether inhaled glucocorticoid therapy, if started soon after the onset of asthma symptom...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3280d35893
更新日期:2007-06-01 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:Concern regarding appendicitis is a common reason for presentation to the paediatric emergency department. We review recent progress in the use of biomarkers, imaging and clinical scoring systems in improving diagnostic accuracy in suspected appendicitis in children. RECENT FINDINGS:Use of ultrasound...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000749
更新日期:2019-06-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide a current review of recent publications with regards to intracranial hypertension. RECENT FINDINGS:Attempts were made to provide pediatric data; however, the recent completion of the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT) has provided a wealth of data with regards to ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000689
更新日期:2018-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The literature was reviewed to describe the role of gait analysis in the orthopaedic management of ambulatory children with cerebral palsy and examine the current best evidence to support these roles. RECENT FINDINGS:Gait laboratory analysis is superior to visual or observational analysis of gait bec...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3280118a6d
更新日期:2007-02-01 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::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 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: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::Intravenous immunoglobulin has been used in the treatment of a variety of disorders since the 1970s. Its safety and efficacy, however, have been evaluated in only a minority of these conditions. At present, intravenous immunoglobulin is licensed for use in primary immunodeficiencies, idiopathic thrombocytopenic purpur...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199512000-00011
更新日期:1995-12-01 00:00:00
abstract::von Willebrand disease (VWD) is a bleeding disorder caused by quantitative (type 1 and 3) or qualitative (type 2) defects of von Willebrand factor (VWF). The mechanisms of most inherited VWD types have been recently elucidated by genetic and molecular diagnosis, but the phenotypic tests based on measurements of plasma...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200202000-00005
更新日期:2002-02-01 00:00:00
abstract::In the past decade a number of studies have systematically addressed the questions that existed regarding optimal ways to rehydrate and then refeed infants and children with diarrhea. Two very thorough papers are the highlights of the past year's publications in the topic of acute gastroenteritis in children. One summ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199710000-00010
更新日期:1997-10-01 00:00:00
abstract::Choledochal cysts are a relatively rare abnormality in the West but are more common in the East. The etiology of choledochal cysts remains unknown. Recently, the incidence in neonates and young infants has been increasing due to advances in diagnostic imaging, including antenatal diagnosis. Choledochal cysts can prese...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199706000-00018
更新日期:1997-06-01 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:PURPOSE OF REVIEW:The purpose of this review is to highlight some of the advances in the way we think about rhabdomyosarcoma (RMS). Recent outcome and biological analyses have shifted the risk stratification and treatment paradigms for pediatric RMS. RECENT FINDINGS:The presence or absence of the FOXO1 translocation i...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000041
更新日期:2014-02-01 00:00:00
abstract::A number of growth factors have been identified that participate in lung growth and repair. The early stages of the repair cascade are important in preventing the later development of fibrosis. Both transforming growth factor-beta and basic fibroblast growth factor can have beneficial effects when given early in some ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199506000-00002
更新日期:1995-06-01 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:PURPOSE OF REVIEW:According to recent Centers for Disease Control (CDC) data, the annual incidence of traumatic brain injury (TBI) in the United States is 1.6-3.2 million, of which the majority is classified as mild. Over half of these injuries occur in the pediatric population, and can often be attributed to a sports-...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835a1a44
更新日期:2012-12-01 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
abstract:PURPOSE OF REVIEW:The purpose of this review is to explore the effects of the opioid crisis on pediatric patients in the postoperative setting and provide recommendations for well-tolerated opioid prescribing practices. RECENT FINDINGS:Opioid overdoses have increased among all age groups, predominantly related to over...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0000000000000768
更新日期:2019-06-01 00:00:00
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::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::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