Abstract:
:The authors present a report on two sibling with a nearly identical phenotype mimicking peroxisomal disorder but with totally discordant biochemical findings. In an attempt to confirm the diagnosis of a peroxisomal disorder, plasma levels of very long chain fatty acids (VLCFA) and phytanic acid were determined. In addition, fibroblasts profile of VLCFA and plasmalogen levels were evaluated for Case 2. Pathomorphological examinations represented by lymph node and kidney biopsies as well as postmortem examinations of liver, adrenals and brain were performed in Case 1. The phenotypes of both siblings showed marked resemblance to those observed in children with Zellweger syndrome. The results of biochemical tests performed in Case 1, together with abundant peroxisomes in the liver and the wide spectrum of clinical abnormalities suggest pseudo-Zellweger or Zellweger-like syndromes, but no conclusive data have been found. The plasmalogen level in fibroblasts as well as the fibroblasts profile of VLCFA noted in Case 2 were within the normal range, thus excluding the possibility of a peroxisomal disorder. The striking phenotype resemblance of the siblings mimicking Zellweger, together with discordant biochemical findings, are difficult to explain on the basis of currently available tests.
journal_name
Clin Pediatr (Phila)journal_title
Clinical pediatricsauthors
Pietrzyk JJ,Turowska-Heydel D,Klimek M,Kaczmarski F,Kaluza Jdoi
10.1177/000992289002900814subject
Has Abstractpub_date
1990-08-01 00:00:00pages
479-84issue
8eissn
0009-9228issn
1938-2707journal_volume
29pub_type
杂志文章abstract::A recent study has claimed that children who do not have gingivitis do not have bacteremia following dental manipulations and that these children do not require antibiotic prophylaxis. Postoperative blood cultures from 53 children and adolescents with and without gingivitis drawn within ten minutes of elevation of the...
journal_title:Clinical pediatrics
pub_type: 临床试验,杂志文章
doi:10.1177/000992287501400609
更新日期:1975-06-01 00:00:00
abstract::A 12-year-old girl presented with weakness, diplopia, and lethargy after a prodrome of gastroenteritis. Laboratory studies were compatible with a diagnosis of hemolytic uremic syndrome. She developed seizures that were controlled by diphenylhydantoin and valium. In spite of peritoneal dialysis and fresh frozen plasma ...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288702601208
更新日期:1987-12-01 00:00:00
abstract::The Internet, an extensive network of interlinked computers storing immense quantities of information, is growing exponentially. The author was interested in discovering what sources of information exist on this network that might be of importance to the pediatric health care provider. To accomplish this aim, a litera...
journal_title:Clinical pediatrics
pub_type: 历史文章,杂志文章,评审
doi:10.1177/000992289603500501
更新日期:1996-05-01 00:00:00
abstract::Our goal was to determine if breastfeeding provides any protection against urinary tract infection (UTI) and if vitamin D supplementation imposes any additional risks for UTI in infants < 3 months of age. In this study, 40% of the children who had urine cultures were breastfed, and 18.7% of the children were exclusive...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922809332588
更新日期:2009-09-01 00:00:00
abstract::The incidence of anorexia nervosa is increasing in adolescents. The pediatrician caring for teenagers is often the first professional confronted with the early signs and symptoms of this disorder. Clinical features and available literature on the psychological, nutritional, and family disorganization found in patients...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288402300404
更新日期:1984-04-01 00:00:00
abstract::The pediatrician must observe and assess a variety of emotional disorders in children, many of which seem related to adverse parental attitudes and actions. It is important for the pediatrician to appreciate the judicial system's constraints in defining psychological abuse so that, when appropriate, legal intervention...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288202101003
更新日期:1982-10-01 00:00:00
abstract::Three infants who presented with premature rupture of membranes and neonatal pneumonia caused by organisms belonging to members of the B. fragilis group are reported. In all 3 instances, the organisms were recovered from tracheal aspirates and in 2 from blood cultures as well. Two of the newborns, treated with ampicil...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288001900807
更新日期:1980-08-01 00:00:00
abstract::Families of children voluntarily enrolled in a managed care program for children with special health care needs receiving SSI and Medicaid benefits and their case managers were surveyed regarding care satisfaction, quality, and access. Claims data were used to compare the cost and utilization of health care before and...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992289903800305
更新日期:1999-03-01 00:00:00
abstract::The study objective was to quantify sugar-sweetened beverage (SSB) offerings to children in Pennsylvania (PA) childcare centers and determine whether this information is communicated to parents. In October 2014, a SurveyMonkey link was sent to 4461 PA childcare centers. The 518 respondents represented 88% of PA counti...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922815591887
更新日期:2016-06-01 00:00:00
abstract:BACKGROUND:Seven pediatric primary care practices participated in New Mexico's Developmental Screening Initiative in a year-long quality improvement project with the goal of implementing standardized developmental screening tools. METHODS:The initiative utilized a learning collaborative approach and the Model for Impr...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922814527499
更新日期:2014-06-01 00:00:00
abstract::Rotavirus gastroenteritis primarily affects children younger than 5 years of age and is the leading cause of diarrhea-related hospitalizations worldwide. The substantial morbidity associated with this disease and the major burden on healthcare resources underscore the need for an effective vaccine. Two recently develo...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922808314903
更新日期:2008-07-01 00:00:00
abstract::The lead content of paint on wooden handles of kitchen utensils ranged from 0 to 9.7 per cent (97,000 ppm). Yellow paint showed the highest concentration of lead followed by green and red colors. The values of lead often exceeded the legal limit on toys and paint for use indoors. ...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992287601500713
更新日期:1976-07-01 00:00:00
abstract::Child psychiatric consultants perform psychiatric assessment and liaison among various clinical services. Execution of these familiar roles for pediatric liver transplantation recipients exposes unfamiliar and difficult bioethical problems. Administrative problems arise if the recipient's suitability is too narrowly e...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288702600207
更新日期:1987-02-01 00:00:00
abstract::Fever is a common complaint leading families to seek medical attention. Its routine management is the bread and butter of pediatric practice. When fever is seen as prolonged beyond the expected time course (eg, 10 days for a presumed viral respiratory tract infection or 3 weeks for mononucleosis), concern for fever of...
journal_title:Clinical pediatrics
pub_type: 杂志文章,评审
doi:10.1177/0009922809347799
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVE:To describe parents' and adolescents' perceptions about vaccination. METHODS:Qualitative interviews of 22 mothers/grandmothers and 25 10- to 14-year-olds. RESULTS:Themes emerged in 3 focus areas. (a) Understanding: Both adults and adolescents had difficulty understanding concepts of risks, benefits, prevent...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922809351091
更新日期:2010-04-01 00:00:00
abstract::Antibiotic choice for pediatric community-acquired pneumonia (CAP) varies widely. We aimed to determine the impact of a 6-month personalized audit and feedback program on primary care providers' antibiotic prescribing practices for CAP. Participants in the intervention group received monthly personalized feedback. We ...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922820928054
更新日期:2020-10-01 00:00:00
abstract::Electronic cigarettes, or e-cigarettes as they are commonly called, have gained wide acceptance among adolescents, especially those with sweet flavors such as bubble gum and cheesecake. Although health effects of e-cigarettes have not been well characterized, their use increases a teen's exposure to nicotine and may s...
journal_title:Clinical pediatrics
pub_type: 杂志文章,评审
doi:10.1177/0009922817705188
更新日期:2017-09-01 00:00:00
abstract::Excessive television (TV) viewing by children can lead to negative health and developmental outcomes. Using structural equation modeling, this study tests a conceptual model to understand social and familial factors associated with TV exposure among a sample of 767 Head Start families with children between the ages of...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922817738340
更新日期:2018-07-01 00:00:00
abstract::A common presenting problem of children in pediatric practice is the constellation of symptoms involving difficulty in completing assignments, trouble with written work, and organizational problems. Typically, these children do not have difficulty with reading but show problems with academic achievement. We have recen...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288302200401
更新日期:1983-04-01 00:00:00
abstract::Two children with multiple severe disabilities due to brain destruction by neonatal infection had recurrent hypothermia (less than 34 degrees C) with associated thrombocytopenia (less than 50,000), and clinical hemorrhage. They also had milder, less consistent erythroid and myeloid cell line abnormalities. The hypothe...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288802700703
更新日期:1988-07-01 00:00:00
abstract::Pediatricians and family physicians can play a significant role in the initiation of dental care for preschool children because they are seen more often by a physician than a dentist. The Committee on Standards for Child Health Care of the American Academy of Pediatrics recommends inspection of the mouth, teeth, and g...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288602500705
更新日期:1986-07-01 00:00:00
abstract::The Parent Attitudes about Childhood Vaccines (PACV) survey for identifying vaccine-hesitant parents was recently validated in Washington State but did not include all recommended childhood vaccines. The current study compares vaccination rates for all recommended childhood vaccines and PACV scores at one pediatric pr...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922815615823
更新日期:2016-06-01 00:00:00
abstract::Developmental language disorder has been reported in 3% to 10% of term infants and 30% of preterm infants (<34 weeks gestation). Screening for language delay in preterm infants can be costly and time-consuming. The objective of this study was to assess the expressive language development of preterm infants using the L...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922812439244
更新日期:2012-07-01 00:00:00
abstract::Objectives. The available literature on pulmonary disease in pediatric inflammatory bowel disease is limited. We evaluated the prevalence of pulmonary manifestations in pediatric inflammatory bowel disease and their association with disease severity. Methods. Patients completed the St. George's Respiratory Questionnai...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922820910821
更新日期:2020-06-01 00:00:00
abstract::One pattern of dysfunctional family interaction is described as a syndrome. Four case histories are presented in which different family members take polar positions on various continua. In one instance the continuum is oral communication, with garrulousness on one side and silence on the other. Another continuum is fa...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/000992288102000408
更新日期:1981-04-01 00:00:00
abstract::A method for the detection of bacterial pathogens in sepsis and bacterial meningitis with 16S rRNA gene- based real-time fluorescent quantitative polymerase chain reaction (FQ-PCR) is developed. A total of 190 blood specimens and 5 cerebrospinal fluid specimens from neonates with suspected sepsis or bacterial meningit...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922809333972
更新日期:2009-07-01 00:00:00
abstract::This article describes ( a) parent questions about ADHD (attention deficit/hyperactivity disorder), ( b) parent Internet use to seek ADHD information, and ( c) associations between type of Internet access and ADHD information-seeking. Seventy parents of children (ages 7-17 years) with ADHD completed questionnaires aft...
journal_title:Clinical pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1177/0009922817691821
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:There are some studies demonstrating the effectiveness of the provision of written asthma action plans in improving asthma outcomes. There exist little data on the ability of parents to use these plans to make asthma care decisions. OBJECTIVE:To assess the associations between parental health literacy (HL),...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922815587089
更新日期:2016-02-01 00:00:00
abstract::An age-appropriate questionnaire (GASP-Q) was used to assess the frequency and severity of the gastroesophageal reflux disease (GERD) symptoms: abdominal/belly pain, chest pain/heartburn, pain after eating, nausea, burping/belching, vomiting/regurgitation, choking when eating, and difficulty swallowing, in adolescents...
journal_title:Clinical pediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1177/0009922806292792
更新日期:2006-10-01 00:00:00
abstract::Iron poisoning was a leading cause of pediatric morbidity and mortality. We sought to assess whether the removal of strict iron packaging requirements in 2003 resulted in an increase in iron-related morbidity and mortality in pediatric exposures. We performed a retrospective cohort study utilizing the National Poison ...
journal_title:Clinical pediatrics
pub_type: 杂志文章
doi:10.1177/0009922819901010
更新日期:2020-05-01 00:00:00