Abstract：
OBJECTIVES:To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. SOURCE OF DATA:Non-systematic literature review, searching for articles since 2000 on PubMed using the terms "genetic evaluation" OR "whole exome sequence" or "whole genome sequence" OR "next generation sequence" AND "immunologic deficiency syndromes" OR "Immune deficiency disease" OR "immune deficiency" NOT HIV. SUMMARY OF THE DATA:Knowledge of medical genetics is essential for the understanding of the principles of heredity and disease inheritance patterns, types of genetic variants, types of genetic sequencing and interpretation of their results. The clinical and immunophenotypic evaluation of each patient is essential for the correlation with the genetic variants observed in the genetic study of patients with primary immunodeficiencies. The discussion of the benefits and limitations of genetic tests should always guide the performance of genetic tests. CONCLUSIONS:There are many evident benefits of genetic analysis, such as the definitive diagnosis of the disease, family genetic counseling, and the possibility of a more adequate and accurate management. Cost, access and interpretation of genetic test results are limitations that need continuous improvement. The understanding of the benefits and limits of the several genetic assessment methodologies related to primary immunodeficiencies is essential to obtain more effective results from the sequencing.
journal_name
J Pediatr (Rio J)journal_title
Jornal de pediatriaauthors
Segundo GRSdoi
10.1016/j.jped.2020.09.007subject
Has Abstractpub_date
2020-10-26 00:00:00eissn
0021-7557issn
1678-4782pii
S0021-7557(20)30218-7pub_type
杂志文章,评审abstract：OBJECTIVE:To evaluate the peak inspiratory pressure and ventilation rate achieved by physicians when using a neonatal self-inflating bag on a lung model. METHODS:Fifteen physicians ventilated full term and preterm infant lung simulators while the outcomes were captured by a ventilation monitor. RESULTS:Median peak pr...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1524
更新日期：2006-09-01 00:00:00
abstract：OBJECTIVE:To investigate risk factors for anemia in infants assisted by public health services. METHODS:In a cross-sectional study carried out in Viçosa, state of Minas Gerais, Brazil, 205 children from 6 to 12 months were evaluated. Socioeconomic, environmental and biological data were collected, as well as informati...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1603
更新日期：2007-03-01 00:00:00
abstract：OBJECTIVES:To draw skinfold (SF) reference curves (subscapular, suprailiac, biceps, triceps) and to determine SF cutoff points for predicting the risk of metabolic syndrome (MetS) in children aged 6-10 years old. METHODS:This was a cross-sectional study with a random sample of 1480 children aged 6-10 years old, 52.2% ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2016.11.013
更新日期：2017-01-01 00:00:00
abstract：OBJECTIVE:To analyze the influence of obesity status on immune cell count and concentration of the hormones cortisol and leptin, in order to establish a relationship among the variables analyzed. METHODS:We recruited 27 obese [body mass index (BMI) > or = 95th percentile] and 21 non-obese (BMI < or = 75th percentile) ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1845
更新日期：2008-11-01 00:00:00
abstract：OBJECTIVE:To evaluate the peak inspiratory pressure, tidal volume and respiratory rate achieved during manual ventilation of premature lambs, using a self-inflating bag. METHODS:In this descriptive, experimental study, five pairs of physicians, selected at random among 35 neonatologists working at a neonatal intensive...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1517
更新日期：2006-07-01 00:00:00
abstract：OBJECTIVE:To review well-known aspects of exogenous surfactant therapy, and to discuss controversial points regarding the current state of research. SOURCES:Review of the literature, using Medline and Cochrane Database Library, in association with the authors' experience in relation to exogenous surfactant replacement...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.900
更新日期：2002-11-01 00:00:00
abstract：OBJECTIVE:To compare the use of intravenous vs. oral antibiotic therapy. METHODS:All febrile neutropenic patients younger than 18 years old with low risk of complications and receiving chemotherapy were selected. The study was conducted from 2002 to 2005 at the Pediatric Oncology Unit of Hospital de Clínicas de Porto ...
journal_title：Jornal de pediatria
pub_type： 杂志文章,随机对照试验
doi：10.2223/JPED.1956
更新日期：2009-11-01 00:00:00
abstract：OBJECTIVE:We sought to describe the prevalence of microcephaly and to compare the different cutoff points established by the Brazilian Ministry of Health (MoH) at various times during a Zika virus epidemic. As a secondary aim, we investigated the possible etiology of the microcephaly. METHOD:This retrospective study u...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2020.08.010
更新日期：2020-10-18 00:00:00
abstract：OBJECTIVE:To determine the prevalence of celiac disease and to describe the histological alterations, clinical manifestations, and conditions associated with a group of first-degree relatives of celiac disease patients in the municipality of Recife, Northeast Brazil. METHOD:The study was conducted in outpatient clinic...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.2013
更新日期：2010-07-01 00:00:00
abstract：OBJECTIVE:To assess the prevalence of metabolic syndrome-like symptoms in a population of preterm infants with very low birth weight (<1500g) at 2 years of corrected age and identify the occurrence of associated risk factors. METHODS:Cross-sectional study during a five-year period, including preterm infants born with ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2018.02.009
更新日期：2019-01-01 00:00:00
abstract：OBJECTIVE:To assess the carotid intima-media thickness and factors associated with cardiovascular disease in children and adolescents with chronic kidney disease. MATERIAL AND METHODS:Observational, cross-sectional study carried out at the Universidade Federal de São Paulo (chronic kidney disease outpatient clinics) w...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2018.06.010
更新日期：2019-01-01 00:00:00
abstract：:The objective of this study is evaluate the pulmonary function in full term newborn infants, comparing classic with non-invasive techniques. We describe the pulmonary function laboratory and software developed at Instituto Fernandes Figueira. We studied 10 healthy full-term newborn infants (birthweight 3.260 g + - 460...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.772
更新日期：1994-05-01 00:00:00
abstract：OBJECTIVE:To evaluate compliance in children with acute lymphoblastic leukemia. METHOD:Compliance was assessed through specific interviews. RESULTS:A total of 73 patients who had concluded the maintenance phase of chemotherapy were enrolled on the study. Eighty-one percent of the interviews were conducted with the pa...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：
更新日期：2005-05-01 00:00:00
abstract：OBJECTIVE:To assess pulmonary function in children and adolescents subjected to correction of rheumatic valve disease in order to quantify changes caused by factors inherent to surgery and rheumatic heart disease. METHODS:This was a longitudinal and quantitative intervention study, undertaken at a children's hospital ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1462
更新日期：2006-03-01 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：:OBJECTIVES: To establish the profile of neonates in Caxias do Sul city, and to study early neonatal mortality, its causes and related variables.METHODS: This cohort study enrolled 5,545 newborns, which were followed up to 7 days after birth. The probability of early neonatal mortality was calculated and multiple logis...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.53
更新日期：2000-05-01 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:The purpose of this review is to offer updating on recent changes in the schedule of active immunization routine in adolescence. METHODS:This review covers specialized medical literature between 1985 and 1996, and follows the recommendations of American Academy of Pediatrics and Advisory Committee on Immuniz...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.505
更新日期：1997-01-01 00:00:00
abstract：OBJECTIVE:To compare two groups of school age girls from different social strata were compared in terms of their perception and knowledge about breastfeeding. METHODS:A structured questionnaire was applied to all 346 4th to 8th grade girls attending two schools, a private one, whose students belonged to the upper clas...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：
更新日期：2003-03-01 00:00:00
abstract：OBJECTIVE:Review the literature on excessive crying in young infants, also known as infantile colic, and its effects on family dynamics, its pathophysiology, and new treatment interventions. DATA SOURCE:The literature review was carried out in the Medline, PsycINFO, LILACS, SciELO, and Cochrane Library databases, usin...
journal_title：Jornal de pediatria
pub_type： 杂志文章,评审
doi：10.1016/j.jped.2016.01.004
更新日期：2016-05-01 00:00:00
abstract：OBJECTIVE:To compare the effectiveness of salbutamol administration by metered-dose inhaler with a home-made spacer versus jet nebulizer in children with moderate wheezing attacks. MATERIAL AND METHODS:A randomized, single-blinded trial was performed with a convenience sample of children presenting wheezing. The child...
journal_title：Jornal de pediatria
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：2003-09-01 00:00:00
abstract：OBJECTIVES:To identify the prevalence of iron deficiency in the population studied, as well as verifying if such deprivation is associated with vitamin A deficiency. METHODS:One hundred seventy-nine children, > or = 24 months and < 72 months of age, with no diarrhea and/or fever at collection were studied. Vitamin A d...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：
更新日期：2005-03-01 00:00:00
abstract：:OBJECTIVE: The aim of this article is to review and update the knowledge about sleep disorders in childhood. SOURCES: Normal sleep ontogenesis and therapeutics for the most prevalent sleep disorders were reviewed. The text was based on classical articles and books and on Medline (publications from 2000 and 2001) using...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.852
更新日期：2002-07-01 00:00:00
abstract：:OBJECTIVE: Describe the morbidity associated with a rare disease due to an embryological defect. METHODS: Retrospective revision of medical and necropsy reports. Bibliographic research using MEDLINE, LILACS and Index Medicus databases. RESULTS: 1 year-old male patient, admitted with generalized tonic-clonic seizures, ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/jped.320
更新日期：1999-07-01 00:00:00
abstract：OBJECTIVE:To identify the relationship between admission hyperglycemia and outcome in children with severe brain injury at hospital discharge and 6 months later. METHOD:A retrospective analysis of blood glucose levels was conducted in 61 children with severe brain injury admitted to the Pediatric Intensive Care Unit b...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.2097
更新日期：2011-07-01 00:00:00
abstract：OBJECTIVE:To evaluate the age at menarche of girls, with or without weight excess, attending private and public schools in a city in Southeastern Brazil. METHODS:This was a cross-sectional study comparing the age at menarche of 750 girls from private schools with 921 students from public schools, aged between 7 and 18...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2014.05.008
更新日期：2015-01-01 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：OBJECTIVE:To investigate how well the parents of children on cow's milk free diets perform at recognizing whether or not expressions describe and foods contain cow's milk proteins. METHODS:Interviews were conducted with 24 parents of children on cow's milk and by-products exclusion diets and 23 parents of children wit...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.2223/JPED.1697
更新日期：2007-09-01 00:00:00
abstract：OBJECTIVE:To generate prediction equations for spirometry in 4- to 6-year-old children. METHODS:Forced vital capacity, forced expiratory volume in 0.5s, forced expiratory volume in one second, peak expiratory flow, and forced expiratory flow at 25-75% of the forced vital capacity were assessed in 195 healthy children ...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：10.1016/j.jped.2015.10.005
更新日期：2016-07-01 00:00:00
abstract：OBJECTIVE:To study epidemiological and clinical aspects of American visceral leishmaniasis in hospitalized children in Ceará, Brazil. METHODS:A retrospective and observational study was carried out with children suffering from American visceral leishmaniasis admitted to Hospital Infantil Albert Sabin in Fortaleza. Med...
journal_title：Jornal de pediatria
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
