Abstract:
OBJECTIVE:2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. Only 4 affected individuals in 2 families have been described. One patient developed athetoid cerebral palsy, and another had severe motor developmental delay with muscle atrophy. A sibling of the first patient is asymptomatic after prenatal diagnosis and early treatment. Family investigations in the second family revealed that the patient's mother was also affected but asymptomatic. METHODS:We report 8 additional patients identified by prospective newborn screening using tandem mass spectrometry. RESULTS:Molecular genetic analysis performed for 3 of these patients revealed that all are homozygous for an 1165A>G mutation that causes skipping of exon 10 of the SBCAD gene. Although there was no obvious consanguinity, all patients belong to the Hmong, an ancient ethnic group that originated in China and constitutes only 0.8% and 0.6% of the Minnesota and Wisconsin population, respectively. Dietary treatment was initiated in the neonatal period. Except for 1 patient who developed mild muscle hypotonia, all patients remain asymptomatic at ages ranging from 3 to 14 months of age. CONCLUSIONS:These cases suggest that SBCAD deficiency is another inborn error of metabolism detectable by newborn screening using tandem mass spectrometry. The continued efficacy of long-term dietary therapy instituted presymptomatically remains to be established.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Matern D,He M,Berry SA,Rinaldo P,Whitley CB,Madsen PP,van Calcar SC,Lussky RC,Andresen BS,Wolff JA,Vockley Jdoi
10.1542/peds.112.1.74subject
Has Abstractpub_date
2003-07-01 00:00:00pages
74-8issue
1 Pt 1eissn
0031-4005issn
1098-4275journal_volume
112pub_type
杂志文章,评审相关文献
PEDIATRICS文献大全abstract:OBJECTIVE:We compared the development of adverse neurodevelopmental outcomes at corrected ages of 18 to 22 months for extremely low birth weight infants exposed prenatally to dexamethasone, betamethasone, or no steroid. METHODS:Study infants were extremely low birth weight (401-1000 g) infants who were in the care of ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2007-1103
更新日期:2008-02-01 00:00:00
abstract::Some functions of an electronic health record system are much more important in providing pediatric care than in adult care. Pediatricians commonly complain about the absence of these "pediatric functions" when they are not available in electronic health record systems. To stimulate electronic health record system ven...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2006-3527
更新日期:2007-03-01 00:00:00
abstract::Concentrations of 11 plasma proteins were measured in 28 healthy, growing, very low birth weight, appropriate-for-gestational-age infants fed varying levels of human milk protein intake (range 1.7 to 3.9 g/kg per day). Significant positive correlations were found between mean protein intake and concentrations of 7 of ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1990-12-01 00:00:00
abstract::Enterovirus 71 (E-71) infection was first reported in 19745 in the United States; subsequent outbreaks were reported in worldwide distribution. In the summer of 1977, we identified 12 patients, mostly children, with E-71 infection. The striking feature of this outbreak is the occurrence of two cases with polio-like pa...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-04-01 00:00:00
abstract:BACKGROUND:Complicated skin and skin structure infections (cSSSI) are common in children. Due to safety and resistance issues with recommended agents, new treatment options would be advantageous. METHODS:Multicenter, evaluator-blinded clinical trial. Patients 1 to 17 years old with cSSSI caused by Gram-positive pathog...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1542/peds.2016-2477
更新日期:2017-03-01 00:00:00
abstract::To determine the rate of childhood under-vaccination, rate and types of missed opportunities (MOs) for vaccinations, and the contribution of MOs to the undervaccination of preschool-age children, the authors conducted a retrospective medical chart review in seven primary care settings in the Rochester, NY, area: a hos...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
abstract:OBJECTIVE:It is often difficult to determine the pathophysiology of childhood diabetes at onset, particularly in overweight children, because obesity has been associated with both type 1 and type 2 diabetes. We compared children at the diagnosis of diabetes in a multiethnic population-based registry to understand the e...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2004-1448
更新日期:2005-05-01 00:00:00
abstract::Three infants with infant botulism are presented to illustrate how atypical, early, and severe features may obscure or delay diagnosis. Two boys aged 6 weeks and 20 days, respectively, presented with rapid deterioration after brief periods of poor feeding, one with an apparent life-threatening event at home and the ot...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2005-0297
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Mental illness in children increases the risk of developing mental health disorders in adulthood, and reduces physical and emotional well-being across the life course. The Mental Health Parity and Addiction Equity Act (MHPAEA, 2008) aimed to improve access to mental health treatment by requiri...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2016-2786G
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:Inattention and hyperactivity are frequent among children with sleep-disordered breathing (SDB) and often improve when SDB is treated. However, the frequency of SDB symptoms among inattentive and hyperactive children has received little study. DESIGN:Cross-sectional survey. SETTING:Two university-affiliated...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1542/peds.109.3.449
更新日期:2002-03-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Many newborn screening (NBS) programs now perform repeat or serial NBS to detect congenital hypothyroidism. There is wide variation in thyroid-stimulating hormone (TSH) cutoffs used by NBS programs. Data on TSH reference ranges in preterm infants at increasing postnatal age are limited. Our st...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2019-0290
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVES:The objectives of this study were to examine the impact of postpartum hospital-stay legislation on newborns' length of stay, neonatal readmissions, and 1-year mortality in California, and whether this legislation had differential impacts by demographics and complications during delivery or pregnancy. METHOD...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2005-3044
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:Exercise can enhance growth and development in children, but recent investigations have revealed an intriguing paradox. Namely, the early (4-5 weeks) response to training programs in children lead to a catabolic, growth hormone (GH)-resistant state rather than the expected anabolic activation of the GH-->insu...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.110.4.681
更新日期:2002-10-01 00:00:00
abstract:OBJECTIVE:To examine risk factors for sudden infant death syndrome (SIDS) with the goal of reducing SIDS mortality among blacks, which continues to affect this group at twice the rate of whites. METHODS:We analyzed data from a population-based case-control study of 260 SIDS deaths that occurred in Chicago between 1993...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:2003-05-01 00:00:00
abstract::This article reviews the literature on possible growth-suppressing effects of stimulant medications in the long-term treatment of children with the hyperkinetic behavior syndrome. The evidence clearly indicates a temporary retardation in the rate of growth in weight and suggests a temporary slowing of growth in statur...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1979-06-01 00:00:00
abstract:OBJECTIVES:The Hawaii Child Asthma Research to Elevate Standards (CARES) Program implemented an emergency department (ED)-based education and management program to facilitate National Asthma Education and Prevention Program (NAEPP) guideline understanding among asthmatic children and their families, ED staff, and healt...
journal_title:Pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1542/peds.2005-2000L
更新日期:2006-04-01 00:00:00
abstract:BACKGROUND:Investigative efforts to improve monitoring during sedation for patients of all ages are part of a national agenda for patient safety. According to the Institute of Medicine, recent technological advances in patient monitoring have contributed to substantially decreased mortality for people receiving general...
journal_title:Pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1542/peds.2005-1709
更新日期:2006-06-01 00:00:00
abstract::A group of 121 children with vesicoureteric reflux (VUR) grades 1 to 3 managed conservatively were followed-up for a period of six to ten years. In the majority of patients VUR grades 1 and 2 disappeared spontaneously. Prognosis was less favorable in those who were seen initially with grade 3 VUR. A statistically sign...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract:OBJECTIVES:To evaluate whether preterm thrombocytopenia within 24 hours of birth is associated with delayed closure of patent ductus arteriosus (PDA) and higher proportion of hemodynamically significant PDA (Hs-PDA). METHODS:Neonates (gestation 260/7-336/7 weeks, age <24 hours) with known platelet count and PDA on ech...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2016-1627
更新日期:2016-10-01 00:00:00
abstract::A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the oxidation of medium-chain fatty acids. One of the children suddenly died at the age of 16 months following an episode of a rapidly deteriorating Reye syndrome-like illness with hypoketotic hypog...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1986-12-01 00:00:00
abstract::Delayed initiation of proper therapy for infants with primary infantile glaucoma results in an unnecessarily poor outcome. In an effort to understand why some infants and children had more advanced disease than others, researchers reviewed the records of 24 consecutive infants and children with this problem. The prese...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1986-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to identify risk factors for developing chronic idiopathic thrombocytopenic purpura in a cohort of pediatric patients with idiopathic thrombocytopenic purpura. METHODS:We conducted a retrospective cohort analysis of 259 children who were diagnosed with idiopathic thrombocytope...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2007-1129
更新日期:2008-03-01 00:00:00
abstract::Adult patients with long-standing hypertension have been reported to experience an impairment in renal function when treatment with potent vasodilating agents is initiated. To document that this sequence may occur in children as well, we report the case of a 4-year-old boy with renal disease in whom reduction of blood...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-06-01 00:00:00
abstract::Servocontrol of skin temperature for the critically ill premature neonate nursed on a radiant warmer bed has been assumed to be analogous to skin temperature control for infants nursed in convection-warmed incubators. There are significant differences between these two warming techniques, and no definitive data exist ...
journal_title:Pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1987-01-01 00:00:00
abstract::Parents, educators, law enforcement officials, and health professionals are all concerned about the violent radicalization of adolescents. Health professionals may be called on to assess teenagers regarding the risk that they will become dangerous. We present a case in which a psychiatrist is asked to do a forensic ev...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2017-0685
更新日期:2017-10-01 00:00:00
abstract:OBJECTIVE:Sleep disorders can cause substantial morbidity but often remain undiagnosed among adults. We identified a series of children with sleep-related symptoms and reviewed medical chart notes for the previous 2 years to determine how often sleep problems had been addressed. DESIGN:Observational. Setting. Two univ...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.107.6.1375
更新日期:2001-06-01 00:00:00
abstract::A retrospective record review was used to examine utilization of a pediatric walk-in clinic available to an entire urban community and to evaluate the effectiveness of follow-up care for a sample of the users of this facility who receive their regular pediatric care at a local comprehensive child health center. Result...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1980-05-01 00:00:00
abstract:CONTEXT:Survival of infants born at the limit of viability varies between high-income countries. OBJECTIVE:To summarize the prognosis of survival and risk of impairment for infants born at 22 + 0/7 weeks' to 27 + 6/7 weeks' gestational age (GA) in high-income countries. DATA SOURCES:We searched 9 databases for cohort...
journal_title:Pediatrics
pub_type: 杂志文章,meta分析
doi:10.1542/peds.2018-0933
更新日期:2019-02-01 00:00:00
abstract::Questionnaires were used to survey 1,435 parents and 446 physicians in order to determine and compare attitudes and beliefs about enuresis. Although both groups thought that bed-wetting is a maturational problem, the parent group thought emotional causes were important and were less likely to accept small bladder size...
journal_title:Pediatrics
pub_type: 杂志文章
doi:
更新日期:1981-05-01 00:00:00
abstract:OBJECTIVE:Our purpose with this work was to examine the relationship between negative comments about weight, shape, and eating and social adjustment, social support, self-esteem, and perceived childhood abuse and neglect. METHODS:A retrospective study was conducted with 455 college women with high weight and shape con...
journal_title:Pediatrics
pub_type: 杂志文章
doi:10.1542/peds.2005-1806
更新日期:2006-08-01 00:00:00