Abstract:
:Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described in 2005, is associated with mutations for the transforming growth factor β receptor and is characterized by findings of cerebral, thoracic, and abdominal arterial aneurysms. This report describes a 17-year-old male patient with a typical neonatal diagnosis of Beals syndrome. At age 15 years, an echocardiogram conducted in response to an aortic dissection in his father showed moderate aortic root dilation, prompting comprehensive testing for aortopathies, revealing a mutation in TGFBR1, thereby changing the diagnosis to Loeys-Dietz syndrome. Previously published reports have not implicated any mutation of the transforming growth factor β receptor genes in cases of Beals syndrome. This case underscores that due to significant phenotypic overlap, there is utility in a full panel of testing, including genes for hereditary connective tissue disorders with vascular involvement, as well as FBN2. Likewise, young patients who have tested negative for FBN2 should be tested for hereditary connective tissue disorders with vascular involvement.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Woolnough R,Dhawan A,Dow K,Walia JSdoi
10.1542/peds.2016-1281subject
Has Abstractpub_date
2017-03-01 00:00:00issue
3eissn
0031-4005issn
1098-4275pii
peds.2016-1281journal_volume
139pub_type
杂志文章相关文献
PEDIATRICS文献大全abstract:BACKGROUND:Previous studies have shown that breastfeeding is associated with reductions in the risk of common infections among infants; however, whether breastfeeding confers longer term protection is inconclusive. METHODS:We linked data from the 2005-2007 IFPS II (Infant Feeding Practices Study II) and follow-up data...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2014-0646D
更新日期:2014-09-01 00:00:00
abstract::During a 12-month period 80 children greater than 3 months of age seen at an emergency room with acute fevers greater than or equal to 39.7 C (103.5 F) and no localizing signs of infection were studied using blood and buffy coat cultures to isolate bacteria and viruses. Bacteremia was identified in three children (3.8...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-08-01 00:00:00
abstract:OBJECTIVE:Our goal was to evaluate the applicability of a "wage-payment" model to inducements for children to participate in research. SUBJECTS AND METHODS:We interviewed 42 children and adolescents between the ages of 4 and 16 years who had diabetes, asthma, seizures, or no chronic medical condition. The interview ex...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2006-1813
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:Inflicted traumatic brain injury (iTBI) is the leading cause of death from TBI in infants. Misdiagnosis of iTBI is common and results in increased morbidity and mortality. Biomarkers may be able to assist in screening infants who are at high risk for iTBI and whose injury might otherwise be missed. We investi...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2005-0711
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVES:To develop and test an evidence-based model for reducing medication errors and harm in hospitalized children. METHODS:Prospective interrupted time series study evaluating the effectiveness of a multifaceted, staged intervention over 4 years in a major urban pediatric referral hospital. Guidelines for safe p...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2011-1902
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:Early postnatal adaptation to transitional circulation in low birth weight infants frequently is associated with low blood pressure and decreased blood flow to organs. Catecholamines have been used widely as treatment, despite remarkably little empirical evidence on the effects of vasopressor/inotropic suppo...
journal_title:Pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1542/peds.2005-2108
更新日期:2006-06-01 00:00:00
abstract::The urinalysis has long been considered an important screening test for hospitalized children. The value of the admission urinalyses, required by hospital bylaws, was assessed for detecting urinary tract disease in children admitted to a day-care unit or impatient medical or surgical services during the months of June...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1990-09-01 00:00:00
abstract::Cariogenicity of seven commonly prescribed liquid medications was studied. Sucrose content of the medications ranged from 0 to 70 gm/100 ml. Initial pH and buffering capacity were measured and found to vary widely among the medications. Intraoral microbial plaque pH changes were determined at intervals for 30 minutes ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-09-01 00:00:00
abstract::The prevalence of obesity among children is high and is increasing. We know that obesity runs in families, with children of obese parents at greater risk of developing obesity than children of thin parents. Research on genetic factors in obesity has provided us with estimates of the proportion of the variance in a pop...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:1998-03-01 00:00:00
abstract:BACKGROUND:Late preterm infant mortality is higher than that for term newborns. The association between weight for gestational age (WGA) category and late preterm mortality has not been well described. OBJECTIVES:Our objectives for this research were as follows: (1) to compare neonatal and infant mortality rates of SG...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2008-3288
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVE:To determine if the incidence of empyema among children in the United States has changed since the introduction of the pneumococcal conjugate vaccine in 2000. METHODS:We used the nationally representative Kids' Inpatient Database to estimate the annual total number of hospitalizations of children < or = 18 y...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2009-0184
更新日期:2010-01-01 00:00:00
abstract::Social networking web sites are popular among adolescents and may represent a new venue for conducting adolescent health research. Conducting research by using social networking web sites raises several concerns, including the social value of this research, fair subject selection, confidentiality, privacy, and informe...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:10.1542/peds.2007-3015
更新日期:2008-01-01 00:00:00
abstract::The scope of pediatric autonomic disorders is not well recognized. The goal of this review is to increase awareness of the expanding spectrum of pediatric autonomic disorders by providing an overview of the autonomic nervous system, including the roles of its various components and its pervasive influence, as well as ...
journal_title:Pediatrics
pub_type: 杂志文章,评审
doi:10.1542/peds.2005-3032
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:Late-onset sepsis (occurring after 3 days of age) is an important problem in very low birth weight (VLBW) infants. To determine the current incidence of late-onset sepsis, risk factors for disease, and the impact of late-onset sepsis on subsequent hospital course, we evaluated a cohort of 6956 VLBW (401-1500 ...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1542/peds.110.2.285
更新日期:2002-08-01 00:00:00
abstract::To assess the relative competence of pediatricians and general practitioners in managing febrile illnesses in childhood, a prospective study was undertaken of 259 children less than 10 years of age seen consecutively at the emergency room of a children's hospital and a general hospital. Both groups of patients were si...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1982-10-01 00:00:00
abstract::Assay of ornithine transcarbamylase (OTC) activity in multiple small bits of liver (approximately 5 mg) that were obtained from a single surgical biopsy in a patient with OTC deficiency revealed a 10- to 40-fold variation in enzyme activity. Similar studies with control autopsy liver specimens varied 2.5-fold at most....
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1978-07-01 00:00:00
abstract:OBJECTIVE:As the number of diagnostic imaging studies performed has increased, the demand for sedation in support of these radiologic tests has also increased. Our objectives were to (1) assess the safety and efficacy of a radiology sedation service that is staffed exclusively by pediatric emergency medicine (PEM) phys...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2005-1385
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that short-term use of ibuprofen increases asthma morbidity in children. METHODS:A randomized, double-blind, acetaminophen-controlled clinical trial was conducted. Children who had asthma and a febrile illness were randomly assigned to receive either acetaminophen suspension or ibuprof...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1542/peds.109.2.e20
更新日期:2002-02-01 00:00:00
abstract::Recent findings from three separate studies support and extend a large and growing body of early-intervention research literature spanning 30 years. The literature is consistent in demonstrating positive developmental outcomes as a result of intensive early intervention for children of low-income and undereducated fam...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
abstract::Acute confusional migraine (ACM) is a dramatic, rare manifestation of migraine described mostly for children and adolescents. There are few data on the treatment of an ACM attack. Prochlorperazine has been suggested as an effective drug. The authors of some reports have suggested that valproic acid may play a role in ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2009-2717
更新日期:2010-04-01 00:00:00
abstract:PURPOSE:To determine whether the use of continuous subcutaneous glucose monitoring will help in detecting unrecognized nocturnal hypoglycemia and in lowering hemoglobin A1c (HbA1c) levels (without increasing the risk for severe hypoglycemia) in children with type 1 diabetes. METHODS:Eleven children with type 1 diabete...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1542/peds.107.2.222
更新日期:2001-02-01 00:00:00
abstract::Safe transportation of preterm and low birth weight infants requires special considerations. Both physiologic immaturity and low birth weight must be taken into account to properly position such infants. This clinical report provides guidelines for pediatricians and other caregivers who counsel parents of preterm and ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2009-0559
更新日期:2009-05-01 00:00:00
abstract::The efficacy of continuous, around-the-clock sustained-release (S-R) theophylline therapy, adjusted to approximate serum or plasma steady state theophylline concentrations (Tc) of 15 microgram/ml three hours following the last dose, was assessed in 18 children suffering from moderately severe chronic asthma. Two of th...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1978-09-01 00:00:00
abstract::Behavioral state, heart rate, and respiration were monitored during heelstick procedures in samples of healthy, term neonates (N = 48) and preterm neonates treated in minimal care (N = 48) and intensive care (N = 48) nurseries. The treated infants who were given pacifiers spent significantly less time fussing and cryi...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1984-12-01 00:00:00
abstract::Height, weight, and head circumference data up to age 4 years are reported for 124 children with phenylketonuria (PKU) who had been started on diet management before 4 months (121 days) of age and who were participating in the Collaborative Study of Children Treated for Phenylketonuria. Growth measurements of both the...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
abstract:OBJECTIVE:Pacifier use has been reported to be associated with a reduced risk of sudden infant death syndrome (SIDS), but most countries around the world, including the United States, have been reluctant to recommend the use of pacifiers because of concerns about possible adverse effects. This meta-analysis was underta...
journal_title:Pediatrics
pub_type: 杂志文章,meta分析
doi:10.1542/peds.2004-2631
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVE:To determine the association between longitudinal growth measures (height, weight, head circumference, and extent of catch-up growth) and neuropsychological functioning at 7 years in moderately and late preterm children. METHODS:This study was part of a prospective, community-based cohort study. Data on grow...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2015-3638
更新日期:2016-10-01 00:00:00
abstract::The prevalence of chronic physical illnesses and their association with mental disorders was assessed using data collected by primary care pediatricians. A chronic illness was diagnosed in 1573 (15.6%) of 10,058 children aged 4 to 16 years, 945 (9.4%) of whom had a "serious" disorder, 535 (5.3%) had a minor disorder (...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1992-03-01 00:00:00
abstract:CONTEXT:The usefulness of S100B has been noted as a biomarker in the management of mild traumatic brain injury (mTBI) in adults. However, S100B efficacy as a biomarker in children has previously been relatively unclear. OBJECTIVE:A meta-analysis is conducted to assess the prognostic value of S100B in predicting intrac...
journal_title:Pediatrics
pub_type: 杂志文章,meta分析
doi:10.1542/peds.2018-0037
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Sexual assault is a major cause of injury, unplanned pregnancy, HIV infection, and mental health problems worldwide. In parts of sub-Saharan Africa, sexual assault has reached epidemic proportions. This study evaluated the efficacy of an empowerment and self-defense intervention for adolescent ...
journal_title:Pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1542/peds.2013-3414
更新日期:2014-05-01 00:00:00