Abstract：
OBJECTIVE:To report the case of two siblings with chronic granulomatous disease. Chronic granulomatous disease is a primary immunodeficiency disorder characterized by abnormal microbicidal activity. Mutations in the p47-phox gene (NCF-1) are present in about 30% of the patients with chronic granulomatous disease; this group presents a better prognosis and later onset of recurrent infections as compared with the X-linked variant, present in about 56% of patients. DESCRIPTION:Case 1 is a female presenting repeat infections since age 10, starting with impetigo followed by severe pneumonia six months later. The severity of the lung infection associated with liver abscess and the patient's resistance to treatment prompted laboratory investigation for immunodeficiency. The results of the nitroblue tetrazolium and superoxide release tests were consistent with a diagnosis of chronic granulomatous disease. The parents and siblings were assessed, revealing the presence of granulomatous disease in a brother (Case 2). He also presented repeat infections with impetigo at age 10, followed by pneumonia six months later, however in a non severe form. Single-strand conformational polymorphism analysis detected abnormal electrophoretic mobility of exon 2 of the NCF-1 gene. Sequence DNA analysis revealed a dinucleotide GT deletion in exon 2. COMMENTS:It is important to evaluate the relatives of chronic granulomatous disease patients, even in the absence of typical clinical signs. Defining the mutation and its correlation with phenotype is important to provide appropriate genetic counseling and clinical prognosis.
journal_name
J Pediatr (Rio J)journal_title
Jornal de pediatriaauthors
Prando-Andrade C,Agudelo-Florez P,Lopez JA,Paiva MA,Costa-Carvalho BT,Condino-Neto Akeywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
425-8issue
5eissn
0021-7557issn
1678-4782journal_volume
80pub_type
杂志文章abstract：OBJECTIVE:To evaluate retinol concentration in colostrum samples collected with a 24 hour interval. METHOD:Colostrum was collected from 24 recently-delivered mothers at two points in time, 0 hours (T0) and 24 hours later (T24), and a pooled sample of colostrum from T0 and T24 was also analyzed. Fat content was determi...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1646
更新日期：2007-07-01 00:00:00
abstract：OBJECTIVE:Sedation is an important step in the management of patients with hypercyanotic spells associated with tetralogy of Fallot (TOF) to ameliorate and prevent recurrence of cyanosis. This case report illustrates the effectiveness of dexmedetomidine-induced sedation in the management of hypercyanotic spells in a ne...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1794
更新日期：2008-07-01 00:00:00
abstract：OBJECTIVES:To evaluate the motor performance of premature neonates using the Alberta Infant Motor Scale (AIMS) and to investigate the influence of birth weight on motor acquisition. METHODS:A cross-sectional study was carried out of a prospective cohort of 44 premature newborn infants with gestational ages from 32 to ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1741
更新日期：2008-01-01 00:00:00
abstract：PURPOSE:To determine the prevalence of innocent murmur among adolescents, and to evaluate the clinical features in comparison with echocardiogram (two-dimensional, M-mode, Doppler, and color-Doppler) in the assessment of heart murmurs. METHODS:The study was carried out from March to December, 1992, and involved high s...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.636
更新日期：1996-09-01 00:00:00
abstract：OBJECTIVE:To assess the evolution of nutritional status in children admitted to the Teaching Hospital of Universidade Federal de Alagoas. METHODS:A retrospective study was performed on 52 children (0-10 yrs) whose length of hospital stay exceeded 10 days (from February to July/2001). We compared their nutritional stat...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.905
更新日期：2002-11-01 00:00:00
abstract：OBJECTIVE:To verify the concurrent validity and interobserver reliability of the Alberta Infant Motor Scale (AIMS) in premature infants followed-up at the outpatient clinic of Instituto Fernandes Figueira, Fundação Oswaldo Cruz (IFF/Fiocruz), in Rio de Janeiro, Brazil. METHODS:A total of 88 premature infants were enro...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1836
更新日期：2008-09-01 00:00:00
abstract：:Phototherapy is a common procedure in the neonatal period. However there is great controversy in the literature about when and at which serum bilirubin levels phototherapy and exchange transfusion should be indicated. The aim of this paper is to review the literature and to suggest guidelines to help pediatricians in ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.776
更新日期：1995-07-01 00:00:00
abstract：OBJECTIVES:Functional echocardiography is a valuable tool in the neonatal intensive care unit, but training programs are not standardized. The aim was to report an functional echocardiography training program for neonatologists and to describe the agreement of their measurements with the pediatric cardiologist. METHOD...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2019.04.006
更新日期：2020-01-01 00:00:00
abstract：OBJECTIVE:Evaluate the prevalence of retinopathy of prematurity (ROP) in very low birthweight infants (birthweight<1500 g). METHOD:A prospective examination was conducted on 102 neonates with very low birthweight admitted to the BAM-HC (FMUSP) between 01/01/92 and 12/31/93. The mapping of the retina with scleral depre...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.564
更新日期：1997-11-01 00:00:00
abstract：OBJECTIVE:To carry out a systematic review on the relationship of bullying with type 1 diabetes in children and adolescents. METHODS:Systematic review, according to the PRISMA methodology, in which the databases PubMed, Web of Science, Scopus, Thomson Reuters, Eighteenth Century Collections Online, Begell House Digita...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2018.10.003
更新日期：2019-01-01 00:00:00
abstract：:OBJECTIVE: To make a brief review about mechanical ventilation in Pediatrics.METHODS: Review of the classification of types of mechanical ventilation, characteristics of pression and flow waves and indications for its installation. In a sequential way we discuss the various modes of ventilation (control ventilation, a...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.476
更新日期：1998-07-01 00:00:00
abstract：OBJECTIVES:To present evidence-based recommendations for the use of antibiotics for the treatment of the most common acute respiratory infections (ARI) and the available information on the importance of this type of management. SOURCES:MEDLINE and LILACS databases, technical publications by international organizations...
journal_title：Jornal de pediatria
pub_type： 杂志文章,评审
doi：10.2223/JPED.1548
更新日期：2006-11-01 00:00:00
abstract：OBJECTIVE:To review the most important aspects of the clinical presentation and treatment of children with cancer in intensive care units. SOURCE OF DATA:Medline (1970 to 2003); search terms: children, cancer, oncology, intensive care, complications. General and pediatric oncology textbooks. SUMMARY OF THE FINDINGS:P...
journal_title：Jornal de pediatria
pub_type： 杂志文章,评审
doi：10.2223/jped.1100
更新日期：2003-11-01 00:00:00
abstract：:OBJECTIVE: To review current information about congenital and perinatal infections, mainly related to their epidemiology in Brazil, mother-to-infant transmission, diagnosis, treatment and prevention. Particular aspects related to the agents T. pallidum, hepatitis B virus, human immunodeficiency virus, cytomegalovirus ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.368
更新日期：1999-07-01 00:00:00
abstract：:OBJECTIVE: Review the theoretical bases on the maintenance of the acid-basic balance, the pathophysiology of the disturbances and its therapeutics in the child.METHODS: References were obtained from computerized searches on the National Library of Medicine (Medline), recent review articles and personal files.RESULTS: ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.393
更新日期：1999-11-01 00:00:00
abstract：OBJECTIVE:To analyze the implementation of a protocol proposed by the Brazilian National Health Surveillance Agency (Agência Nacional de Vigilância Sanitária - ANVISA) to improve sepsis diagnosis in very low birth weight newborns. METHODS:This was a prospective study that evaluated the implementation of a protocol inv...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2013.01.009
更新日期：2013-09-01 00:00:00
abstract：OBJECTIVES:The aim of the study was to describe the experience with high-frequency oscillatory ventilation (HFOV) in a Portuguese Pediatric Critical Care Unit, and to evaluate whether HFOV allowed improvement in oxygenation and ventilation. METHODS:This was a retrospective observational cohort study of children ventil...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2013.02.008
更新日期：2013-01-01 00:00:00
abstract：OBJECTIVE:To verify children's acceptance of nasal fiber optic examination in a school setting and to evaluate hypertrophy of adenoid vegetation and to determine its prevalence in this population. METHOD:A survey was performed of a representative (n = 368) sample of school age children at elementary school (aged 6 to ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1416
更新日期：2005-11-01 00:00:00
abstract：OBJECTIVE:To observe the intensity of the inflammatory reaction caused by urine on the intestinal wall of rats. METHODS:Experimental model, using 20 Wistar rats divided into two groups. All the animals were submitted to abdominal puncture at the right inferior quadrant, twice daily for five days. In Group I (control g...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.1113
更新日期：2003-11-01 00:00:00
abstract：OBJECTIVES:To evaluate the possible effects of the introduction of the pneumococcal conjugate 10-valent vaccine schedule in the state of Parana on pneumococcal meningitis cases and to assess the distribution of serotypes among cases. METHOD:Cross-sectional study with retrospective data collection of cases of pneumococ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2014.07.002
更新日期：2015-03-01 00:00:00
abstract：:The purpose of the authors in this article was to evaluate the effects of supplementing maternal milk with two different caloric formulas on the growth of premature newborns until they reached 40 weeks of post-conceptional age. Seventy premature infants weighing < 1750g at birth were randomized: 35 adequate for gestat...
journal_title：Jornal de pediatria
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.2223/jped.607
更新日期：1996-05-01 00:00:00
abstract：OBJECTIVE:To evaluate the trend of pneumonia mortality in Brazilian children aged 4 years and younger from 1991 to 2007. METHODS:We conducted a retrospective study based on the database of the IT Department of the Brazilian Unified Health System (DATASUS), from which we obtained the number of deaths from pneumonia and...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.2070
更新日期：2011-03-01 00:00:00
abstract：OBJECTIVE:Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The authors aim to define the se...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2019.02.003
更新日期：2020-01-01 00:00:00
abstract：OBJECTIVE:Interleukin 8 protein promotes inflammatory responses, even in airways. The presence of interleukin 8 gene variants causes altered inflammatory responses and possibly varied responses to inhaled bronchodilators. Thus, this study analyzed the interleukin 8 variants (rs4073, rs2227306, and rs2227307) and their ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2017.03.005
更新日期：2017-01-01 00:00:00
abstract：OBJECTIVE:To describe the antimicrobial activity of β-defensin-2 produced in the mammary gland and secreted in human breast milk. METHODS:The peptide production was performed by DNA cloning. β-defensin-2 levels were quantified in 61 colostrum samples and 39 mature milk samples from healthy donors, by an indirect enzym...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2014.05.006
更新日期：2015-01-01 00:00:00
abstract：OBJECTIVE:To describe the main predictors for excess birth weight in Brazilian children. DATA SOURCES:Systematic review carried out in the bibliographic databases: PubMed/MEDLINE, Cochrane, Scopus, Web of Science, and LILACS. The research in the gray literature was performed using the Google Scholar database. The bias...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2018.04.006
更新日期：2019-01-01 00:00:00
abstract：:OBJECTIVE: To present, in practical form and updated terms, the clinical aspects of the varicella and its prevention using either vaccination or isolation precautions. METHOD: Review of the literature using MEDLINE and LILACS referring to the last 10 years; presentation of the most recent aspects in the literature as ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.379
更新日期：1999-07-01 00:00:00
abstract：OBJECTIVE:To evaluate the presence of insulin resistance and its association with other metabolic abnormalities in obese children and adolescents. METHODS:Retrospective study of 220 children and adolescents aged 5-14 years. Anthropometric measurements were performed (weight, height, and waist circumference) and clinic...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2014.03.005
更新日期：2014-11-01 00:00:00
abstract：OBJECTIVE:To evaluate the incidence of diarrheal disease (DD) and acute respiratory infection (ARI) in children undergoing supplementation of zinc and other micronutrients through the use of sprinkles, as well as their acceptance by these patients. METHOD:This was a randomized double-blinded clinical trial of 143 heal...
journal_title：Jornal de pediatria
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.jped.2012.11.004
更新日期：2013-05-01 00:00:00
abstract：OBJECTIVE:To determine the prevalence of pathologic gastroesophageal reflux in a group of regurgitant infants attended at Helena Moura Hospital, Recife, State of Pernambuco, Brazil. The clinical criteria employed were based on Rome II criteria. METHOD:The study design was transversal. The patients were all children of...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：
更新日期：2004-07-01 00:00:00
