Abstract:
OBJECTIVE:The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES:The concepts presented are based on an historical synthesis of the literature on GC since the 1930s until today, and the articles cited represent the most important research published which today provides the foundation for the theory and practice of GC. SUMMARY OF THE FINDINGS:The modern definition of GC is a process of communication that deals with the human problems related with the occurrence of a genetic disease in a family. It is of fundamental importance that health professionals are aware of the psychological aspects triggered by genetic diseases and the ways in which these can be managed. In the field of human and medical genetics we are still living in a phase in which technical and scientific aspects predominate, with little emphasis on the study of emotional reactions and people's processes of adaptation to these diseases, which leads to clients having a low level of understanding of the events that have taken place, with negative consequences for family life and for society. CONCLUSIONS:The review concludes by discussing the need to refer families with genetic diseases for GC and the need for professionals working in this area to invest more in humanizing care and developing non-directive psychological GC techniques.
journal_name
J Pediatr (Rio J)journal_title
Jornal de pediatriaauthors
Pina-Neto JMdoi
10.2223/JPED.1782subject
Has Abstractpub_date
2008-08-01 00:00:00pages
S20-6issue
4 Suppleissn
0021-7557issn
1678-4782journal_volume
84pub_type
杂志文章,评审abstract::OBJECTIVES: To describe the characteristics of the patients not resuscitated in a university affiliated pediatric hospital. To characterize the data registered in the chart regarding the resuscitation and evaluate ethical and legal aspects of CPR (cardiopulmonary resuscitation). METHODS: Retrospective study of 176 dea...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.2223/jped.89
更新日期:2000-11-01 00:00:00
abstract::OBJECTIVES: To present the clinical outcome of a newborn with severe respiratory distress secondary to meconium aspiration syndrome and treated by extracorporeal membrane oxygenation (ECMO); and to present the effect of the use of exogenous surfactant in this case and the cost of the procedure. METHODS: Case report of...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.2223/jped.212
更新日期:2001-05-01 00:00:00
abstract:OBJECTIVE:To describe the association between electronic devices in the bedroom with sedentary time and physical activity, both assessed by accelerometry, in addition to body mass index in children from São Caetano do Sul. METHODS:The sample consisted of 441 children. The presence of electronic equipment (television, ...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.1016/j.jped.2015.01.009
更新日期:2015-11-01 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::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 analyze calcium intake in adolescents according to sociodemographic variables, health-related behaviors, morbidities, and body mass index. METHODS:This was a cross-sectional population-based study, with a two-stage cluster sampling that used data from a survey conducted in Campinas, São Paulo, Brazil, bet...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.1016/j.jped.2015.09.004
更新日期:2016-05-01 00:00:00
abstract:OBJECTIVE:To assess the applicability of salivary C-reactive protein, mean platelet volume, neutrophil-lymphocyte ratio, and platelet lymphocyte ratio in the diagnosis of neonatal sepsis. METHODS:Prospective case-control study of 70 full-term neonates, 35 with sepsis (20 with proven sepsis and 15 with clinical sepsis)...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.1016/j.jped.2017.03.006
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to investigate the effect of different ergonomic desk designs and pencil grip patterns on handwriting performance in children with hemiplegic cerebral palsy and healthy children. METHODS:Twenty-six children with left hemiplegic cerebral palsy and 32 typically developing children wer...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.2223/JPED.1914
更新日期:2009-07-01 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 evaluate the effect of zinc on the appetite for salt foods in children aged 8 months to 5 years. METHOD:Double-blind, placebo-controlled study. Two groups of 20 children refusing to eat salt foods were followed during 6 months. The children in the first group received zinc chelate 1 mg/kg daily for 3 mont...
journal_title:Jornal de pediatria
pub_type: 临床试验,杂志文章
doi:10.2223/1134
更新日期:2004-01-01 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:OBJECTIVES:To guide the diagnostic and therapeutic management of severe forms of food allergy. DATA SOURCES:Search in the Medline database using the terms "severe food allergy," "anaphylaxis and food allergy," "generalized urticaria and food allergy," and "food protein-induced enterocolitis syndrome" in the last ten y...
journal_title:Jornal de pediatria
pub_type: 杂志文章,评审
doi:10.1016/j.jped.2017.06.021
更新日期:2017-01-01 00:00:00
abstract::OBJECTIVE: To determine the prevalence of rotavirus in the etiology of acute diarrhea in children from Natal city, RN, Brazil and investigate the existence or not of a seasonal distribution of this pathogen in our environment.METHODS: Fecal samples from 1,903 children (boys and girls) with ages ranging from 1 month to...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.2223/jped.6
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVE:To describe the linear growth and growth velocity of preterm infants born small for gestational age according to variables such as weight, length and head circumference, from birth to three months of corrected age. METHODS:Prospective study of one hundred preterm infants born small for gestational age from 2...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:
更新日期:2002-05-01 00:00:00
abstract:OBJECTIVE:To present an up-to-date and critical review regarding food allergies, focusing mainly on treatment and prevention. SOURCES:Review of published literature searched on MEDLINE database; those data which were the most up-to-date and representative were selected (2000-2006). The search included the European Soc...
journal_title:Jornal de pediatria
pub_type: 杂志文章,评审
doi:10.2223/JPED.1587
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:To contribute with information about the adequate administration of drugs during breastfeeding. SOURCES OF DATA:MEDLINE articles from 1993 to 2004, and Lilacs articles from 1995 to 2004 were selected in Portuguese, Spanish and English, by including the following keywords: breastfeeding, lactation, drugs and ...
journal_title:Jornal de pediatria
pub_type: 杂志文章,评审
doi:10.2223/1246
更新日期:2004-11-01 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
abstract:OBJECTIVE:To describe the clinical and demographic characteristics of non-Hodgkin's lymphoma patients diagnosed at the Pediatric Oncology Unit at the Instituto Materno-Infantil Professor Fernando Figueira (IMIP) over a 9-year period, and also to describe their survival rates and possible associations between the surviv...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.2223/JPED.1726
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:To describe intubation procedures in two pediatric and two neonatal intensive care units in the city of Porto Alegre. METHODS:Cross-sectional study divided into a retrospective and a prospective phase. All intubations performed in these units during a 6-month period were considered. Data were collected by in...
journal_title:Jornal de pediatria
pub_type: 杂志文章,多中心研究
doi:
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVE:To evaluate risk factors and lethality of late onset laboratory-confirmed bloodstream infection (LCBI) in a Brazilian neonatal unit for progressive care (NUPC). METHODS:This was a case-control study, performed from 2008 to 2012. Cases were defined as all newborns with late onset LCBI, excluding patients with...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.1016/j.jped.2013.03.002
更新日期:2013-03-01 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:OBJECTIVE:To investigate the association between postpartum depression and the occurrence of exclusive breastfeeding. METHOD:This is a cross-sectional study conducted in the states of the Northeast region, during the vaccination campaign in 2010. The sample consisted of 2583 mother-child pairs, with children aged from...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.1016/j.jped.2016.08.005
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:Plastic bronchitis is an unusual condition in children, associated with formation of mucofibrinous casts and mucous plugging of the tracheobronchial tree. Given that this illness is part of the differential diagnosis of acute respiratory failure, early treatment is important for improved prognosis. The aim of...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.2223/JPED.1425
更新日期:2005-11-01 00:00:00
abstract:OBJECTIVE:To analyze the evolution of pediatric patients chosen for hepatic transplantation. METHODS:A review was made of the clinical charts of the first 65 children and adolescents with chronic liver disease, aged 5 months to 19 years (X = 6.8%), chosen for liver transplantation during the period of August 1994 to M...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.2223/jped.511
更新日期:1997-03-01 00:00:00
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 ...
journal_title:Jornal de pediatria
pub_type: 杂志文章,评审
doi:10.1016/j.jped.2020.09.007
更新日期:2020-10-26 00:00:00
abstract::A prospective study of acute diarrhoeal diseases was carried out from April 1990 to September 1992 with the purpose of assessing the immunogenicity, safety and efficacy of a Rhesus-human reassortant rotavirus ("RRV-TV") vaccine, involving 540 children living in Belém, Pará, Brazil. As half of the children received pla...
journal_title:Jornal de pediatria
pub_type: 临床试验,杂志文章
doi:10.2223/jped.714
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:To find evidence of the symptoms of anxiety/depression in children with developmental coordination disorder as compared to their typically developing peers at both the group and individual level, and to identify how many different tools are used to measure anxiety and/or depression. METHODS:Electronic search...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.1016/j.jped.2019.03.002
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:To meta-analyze health-related quality of life in pediatric patients with chronic kidney disease in comparison to healthy patients according to the dimensions of the PedsQL instrument. SOURCES OF DATA:A systematic review was performed with meta-analysis for the mean difference in each of the health-related q...
journal_title:Jornal de pediatria
pub_type: 杂志文章,评审
doi:10.1016/j.jped.2020.10.013
更新日期:2020-12-17 00:00:00
abstract:OBJECTIVE:to determine the prevalence of mouth breathing and to associate the history of breastfeeding with breathing patterns in children. METHODS:this was an observational study with 252 children of both genders, aged 30 to 48 months, who participated in a dental care program for mothers and newborns. As an instrume...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:10.1016/j.jped.2013.12.011
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVE:This study reviews clinical features, evolution, comorbidity and suicidal behavior in childhood and adolescence depression. Its objective is to provide clear information on this common, severe and not very easily recognized pathology. SOURCES:Literature searches were performed through Medline (1991-2000), wi...
journal_title:Jornal de pediatria
pub_type: 杂志文章
doi:
更新日期:2002-09-01 00:00:00