Abstract:
:The characteristic phenotype of CHARGE syndrome includes: coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies with or without hearing loss, which give the name (an acronym) to this condition. The molecular cause in 60% of the cases are mutations in the chromodomain helicase DNAbinding protein gene (CHD7), with an estimated frequency of 1 in 10,000 live born infants. We describe 3, not related patients with a clinical diagnosis of CHARGE syndrome and each of them with a different mutation in the CHD7 gene sequence.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Lobete Prieto CJ,Llano Rivas I,Fernández Toral J,Madero Barrajón Pdoi
10.1590/S0325-00752010000100016subject
Has Abstractpub_date
2010-02-01 00:00:00pages
e9-e12issue
1eissn
0325-0075issn
1668-3501pii
S0325-00752010000100016journal_volume
108pub_type
杂志文章abstract:BACKGROUND:Nosocomial infections are a major problem in Neonatal Intensive Care Units. Coagulase negative Staphylococcus (CONS) is the most common causative agent. We evaluated the efficacy of cefazolin versus vancomycin as initial therapy for neonates with presumptive clinical signs of nosocomial sepsis probably cause...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,随机对照试验
doi:10.5546/aap.2014.308
更新日期:2014-08-01 00:00:00
abstract:INTRODUCTION:Information on insulin reference values and insulin sensitivity indices in the field of pediatrics is scarce. OBJECTIVE:To describe insulin range and insulin sensitivity surrogate indices during childhood. MATERIALS AND METHODS:Fasting insulin level range and surrogate indices, such as the homeostasis mo...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2016.eng.329
更新日期:2016-08-01 00:00:00
abstract::A 2-year-old boy was admitted with diagnosis of diabetes debut, with blood glucose of 500 mg% on admission, without ketosis or metabolic acidosis. He also presented bilious vomiting and brownish bloody stools. He was operated with a presumptive diagnosis of acute intestinal obstruction. The final diagnosis was volvulu...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752011000600015
更新日期:2011-12-01 00:00:00
abstract:INTRODUCTION:Objectives. To assess risk factors associated withneonatal mortality in very low birth weight (VLBW) infants (< 1500 g) and the impact of the administration of antenatal corticosteroids. POPULATION AND METHODS:Retrospective analysis of a VLBW infant cohort from 26 tertiary care and teaching sites member o...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,多中心研究
doi:10.5546/aap.2016.426
更新日期:2016-10-01 00:00:00
abstract::Skin and soft tissue infections are a common reason for consultation in primary health care centers. Data from the local epidemiology of these infections are rare, but Staphylococcus aureus and Streptococcus pyogenes are known to be the major etiologic agents. The appearance in recent years of community-originated str...
journal_title:Archivos argentinos de pediatria
pub_type: 共识发展会议,杂志文章
doi:10.5546/aap.2014.96
更新日期:2014-02-01 00:00:00
abstract:Introduction:Infant mortality comprises deaths among infants younger than one year old. The proportion of sudden unexpected death in infancy (SUDI) varies by country and based on the cause of death. Objective:To describe the spatial and temporal variation of SUDI in Argentina between 1991 and 2014 according to the Int...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2019.eng.164
更新日期:2019-06-01 00:00:00
abstract::Meconium periorchitis is uncommon. In the unborn child the peritoneum vaginal canal is open and, secondary to intestinal perforation due to any cause (intestinal atresia, volvulus, and others), meconium peritonitis occurs. The intestinal content reaches the scrotal vaginal cavity. Meconium peritonitis can heal spontan...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2015.e330
更新日期:2015-12-01 00:00:00
abstract::Tuberculosis is a common cause of morbimortality among children, especially in developing countries, where 95% of cases occur. Child tuberculosis is closely related to tuberculosis in the adult, since the diagnosis is an indicator of poor surveillance, treatment, and effort to eradicate it. Tuberculous lymphadenitis (...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752011000200012
更新日期:2011-04-01 00:00:00
abstract::Propionic acidemia is a rare metabolic disease (prevalence 1/100,000) that can be early detected with the newborn metabolic screening within the first 72 hours of life. It can have a severe neonatal presentation, a late intermittent onset or a chronic and progressive course. The treatment in the crisis consists in inv...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.e53
更新日期:2020-02-01 00:00:00
abstract:INTRODUCTION:There is epidemiological, functional and pathologic evidence that relates upper and lower airways, clinically known as a single respiratory tract. Patients with allergic rhinitis without asthma may present subclinical abnormal spirometry parameters. OBJECTIVES:To describe the results of the flow-volume cu...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2013.322
更新日期:2013-07-01 00:00:00
abstract::Lichen nitidus is a dermatosis of unknown origin, characterized by the presence of shiny, pinpoint, skin-colored papules that may be asymptomatic or slightly pruriginous. They usually affect forearms, abdomen, buttocks and genitals. We report two cases, one of them with a generalized presentation. Both were treated wi...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2012.e13
更新日期:2012-01-01 00:00:00
abstract::The acid-labile subunit (ALS) is an 85 kDa glycoprotein that belongs to the leucine-rich repeat superfamily. It mainly circulates in serum bound to a high molecular weight ternary complex. The main and most widely studied function of ALS is to prolong the half-life of the binary complex formed by insulin-like growth f...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
doi:10.5546/aap.2017.eng.391
更新日期:2017-08-01 00:00:00
abstract:INTRODUCTION:Under-diagnosis and underrecording of overweight and obesity in pediatrics is very common. Using an electronic medical record may be helpful. The objective was to establish the percentage of recording of this problem by primary care pediatricians and analyze if it was associated with the performance of anc...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.eng.132
更新日期:2020-04-01 00:00:00
abstract::Genital ulcers are a rare entity in pediatric consultation, but they generate great family anxiety. Lipschütz ulcers are acute, painful, and self-limiting vulvar ulcers of unknown cause. These ulcers appear in young women who have not had previous sexual intercourse or after a period of sexual abstinence. We present a...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.e436
更新日期:2017-12-01 00:00:00
abstract:Introduction:Currently, there is no complete registry of pediatric residences in Argentina. Objectives:To identify all pediatric residences in Argentina. To establish a situation diagnosis and a unified registry. Methods:Descriptive, observational crosssectional study. A preliminary list of residences was established...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.358
更新日期:2020-10-01 00:00:00
abstract::Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Desmopressin is the synthetic drug of choice for the treatment. One of the routes of administration is sublingual...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2018.e93
更新日期:2018-02-01 00:00:00
abstract::Food allergy is defined as a reproducible adverse reaction that results from a specific and reproducible immune response triggered by exposure to food. The immune response can be mediated by immunoglobulin E, not mediated by immunoglobulin E or both. During the first year, cow´s milk protein is the first protein faced...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.eng.e554
更新日期:2020-12-01 00:00:00
abstract:INTRODUCTION:Necrotizing enterocolitis (NEC) is a frequent problem in preterm infants. Prenatal treatment with steroids proved to be effective for lung maturation and it is thought to have a protective effect on the immature bowel. OBJECTIVES:To study the effects of prenatal treatment with steroids at the onset, clini...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752011000100007
更新日期:2011-02-01 00:00:00
abstract::The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It i...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2015.e14
更新日期:2015-01-01 00:00:00
abstract::Castleman's disease (CD) is a rare entity, characterized by lymph node follicles hyperplasia. It rarely occurs in children. We present a case of a 9 year old girl with CD in the parotid region. This disease, although it's low incidence in pediatric population, may mimic a malignant neoplasm and should be a differentia...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752013000400016
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND/AIM:The objective of our study was to analyze the lipid profile and some risk factors of atherosclerosis such as oxidized-low density lipoprotein (ox-LDL), small dense LDL (sd LDL) in the offspring of patients with premature coronary heart disease (CHD). POPULATION AND METHODS:Children whose parents had ear...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.eng.50
更新日期:2017-02-01 00:00:00
abstract::Hyperthyroidism is a serious and rare disorder in childhood characterized by the overproduction of thyroid hormones by the thyroid gland. Graves disease is the most common cause. The objective of this paper is to review and update hyperthyroidism in children and adolescents aiming to guide its early detection and refe...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2021.s1
更新日期:2021-02-01 00:00:00
abstract:INTRODUCTION:The analysis of free fetal DNA in maternal plasma allows the assessment of fetal genetic material avoiding the necessity of invasive procedures during pregnancy. OBJECTIVE:To evaluate the feasibility and the diagnostic performance of fetal sex and fetal RhD detection through the analysis of free fetal DNA...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752009000500006
更新日期:2009-10-01 00:00:00
abstract::The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2016.e167
更新日期:2016-06-01 00:00:00
abstract::Vaccinations are a critical public health tool. However, a significant number of people decide not to get vaccinated or refuse to have their children immunized. Physicians who recommend people who have an indication for vaccination not to get vaccinated go against official immunization programs, contradict sound scien...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2015.443
更新日期:2015-10-01 00:00:00
abstract:INTRODUCTION:Valvular dysfunction secondary to obstruction of proximal catheter is relatively frequent at emergency room. However non-infectius obstruction of distal catheter is exceptional. CASE REPORT:A 6-year-old boy with dysfunction shunt due to migration of the abdominal catheter into the right scrotum. The patie...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2013.e14
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:Multidrug resistant Gramnegative (MDRGN) infections are an increasing problem in neonatal intensive care units. The objective of this study was to establish the epidemiological, clinical, microbiological, and evolutionary characteristics of carbapenem-resistant MDRGN infections and the risk factors for the...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2019.eng.6
更新日期:2019-02-01 00:00:00
abstract::Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.e24
更新日期:2017-02-01 00:00:00
abstract::Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewin...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2018.e341
更新日期:2018-04-01 00:00:00
abstract:INTRODUCTION:Hydatid cyst, which is caused by Echinococcus granulosus, is mostly seen in the liver and lungs although it may also rarely be found in any organ or soft tissue. This study presents an interesting case of pancreatic hydatid cyst in which the pancreatic duct opened into this cyst. CASE REPORT:A 10-year-old...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2016.e346
更新日期:2016-10-01 00:00:00