Abstract:
:Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral abnormalities associated with molecular anomaly in 17p11.2. Treatment includes: early childhood intervention programs, special education, vocational training later in life, and speech/language, physical, and occupational, behavioral, and sensory integration therapies. We report a 14-year-old girl with mental retardation, behavioral abnormalities and facial dysmorphism, with SMS diagnosis confirmed by cytogenetic analysis and in situ hydridization (FISH).
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Bronberg R,Ziembar M,Drut M,Goldschmidt Edoi
10.1590/S0325-00752008000200009subject
Has Abstractpub_date
2008-04-01 00:00:00pages
143-6issue
2eissn
0325-0075issn
1668-3501pii
S0325-00752008000200009journal_volume
106pub_type
杂志文章,评审abstract::Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe five patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the first case described in conjoined twins. We analyzed the perinatal history, psychomo...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2012.e50
更新日期:2012-05-01 00:00:00
abstract::The iron is the main component of hemoglobin and is also part of myoglobin and enzymes. Its deficit is the most common cause of nutritional anemia in humans. The use of iron salts is very common in children, because they are indicated for prophylaxis and treatment of iron deficiency anemia. The availability in househo...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752011000100015
更新日期:2011-02-01 00:00:00
abstract:INTRODUCTION:Children take years to learn symbolic arithmetic. Nevertheless, such as animals and human adults, infants and children can represent approximate number in arrays of objects and sequences of events, and use these capacities to perform approximate addition and subtraction. OBJECTIVE:To evaluate whether pres...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752011000500006
更新日期:2011-10-01 00:00:00
abstract::Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752013000500010
更新日期:2013-10-01 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::Preeclampsia affects between 4% to 8% of all human pregnancies. It compromised both mothers and offspring beyond perinatal period. This is the second of two papers devoted to show the available evidence about the effect of preeclampsia on offsprings beyond perinatal period from cohort studies, some over 60-years follo...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
doi:10.1590/S0325-00752011000600009
更新日期:2011-12-01 00:00:00
abstract::Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, tricho...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2016.eng.e403
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Hodgkin's lymphoma (HL) is one of the most curable pediatric cancers, however it is rare among children under five years of age and prognostic factors for survival rate are still unknown due to low frequency in this age group. OBJECTIVES:The aim of this study was to evaluate clinical characteristics, treatm...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2019.eng.e459
更新日期:2019-10-01 00:00:00
abstract:INTRODUCTION:The Pediatric Index of Mortality 2 (PIM2) is one of the most commonly used scoring systems to predict mortality in patients admitted to pediatric intensive care units (PICU) in Argentina. The objective of this study was to validate the PIM2 score in PICUs participating in the Quality of Care Program promot...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,多中心研究
doi:10.5546/aap.2015.221
更新日期:2015-06-01 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: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::Several socio-environmental risk factors causea large number of children born prematurely, and without neurological disorders, to have low scores in their development, particularly in the cognitive and socio-emotional skills areas, thus evidencing a potential future risk. Strengthening bonds with the family and caregi...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.eng.588
更新日期:2017-12-01 00:00:00
abstract::Lipoblastoma is part of tumors derived from adipose tissue. It is a benign neoplasm that can be localized or diffuse, affecting children in early childhood and usually located in the trunk and extremities. These tumors are uncommon in the pediatric age, but when one of them is present, it is a challenge that we must r...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2018.e139
更新日期:2018-02-01 00:00:00
abstract::From the beginning of medicine, the reproduction of patients' images, initially as drawings, either for didactic purposes or to share experiences, were common in medical practice. Photography greatly facilitated and generalized this practice within health teams. The images of the affected patients need the same consen...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.S64
更新日期:2020-04-01 00:00:00
abstract::Neonatal jaundice may be due to different causes, ranging from physiological conditions to severe diseases. In term neonates with persistent jaundice beyond 14 days of life, it should be determined whether hyperbilirubinemia is unconjugated or conjugated, in order to study the etiology and start early treatment. In th...
journal_title:Archivos argentinos de pediatria
pub_type: 共识发展会议,杂志文章
doi:10.5546/aap.2020.S12
更新日期:2020-02-01 00:00:00
abstract::Familial hypercholesterolemia is one of the most common genetic disorders and it provides the best evidence on the etiologic role of LDL-colesterol for arteroesclerosis development. Two patients with severe hypercholesterolemia had been presented. Importance of early diagnosis and treatment has been stated to avoid or...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
doi:10.1590/S0325-00752011000400015
更新日期:2011-08-01 00:00:00
abstract::Osteoporosis should be considered in children with severe chronic diseases or in association with some genetic diseases that bear an increased risk of bone fragility. Primary osteoporosis is an entity in which emerging aetiologies are being recognized. Its association with congenital retinal folds should guide the dia...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.e300
更新日期:2020-06-01 00:00:00
abstract::Pheochromocytoma is a rare tumor which is infrequent in children. Although the clinical presentation in children can be atypical, the classic symptoms are headache, sweating and tachycardia. Hypertension is often a constant sign in most patients. There are few cases in literature reporting pheochromocytoma presented w...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.e255
更新日期:2017-08-01 00:00:00
abstract::Posterior reversible encephalopathy is a rare disease in children. Clinical manifestations include headache, seizures, visual disturbances and altered consciousness associated with typical magnetic resonance images of the nervous system. The syndrome usually manifests in patients with eclampsia, solid organ transplant...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2015.e271
更新日期:2015-10-01 00:00:00
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:OBJECTIVE:To describe the clinical characteristics of invasive Staphylococcus aureus infections in children and identify the prognostic factors of severity and mortality. MATERIALS AND METHODS:Observational study in patients < 16 years old hospitalized between 2010 and 2015 due to invasive S. aureus infections at the ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2019.eng.381
更新日期:2019-12-01 00:00:00
abstract::There are few studies on the use of illicit drugs during pregnancy with a variable prevalence depending on the year, maternal age, region and diagnostic methods. Mothers' and newborn infants' urine samples were tested for illegal drugs in cases where the mother reported consumption, lack of antenatal care and neonatal...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2013.232
更新日期:2013-06-01 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:Early excision has considerably improved outcome in extensive burns, but massive resections usually mean copious bleeding that must be conveniently corrected. The purpose of this study was to measure blood component use during escharectomies in children. MATERIAL AND METHODS:All pediatric patients with ac...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752010000100010
更新日期:2010-02-01 00:00:00
abstract::Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. There is no curative treatment for nemaline myopathy. Therapeutic strategies ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2019.e382
更新日期:2019-08-01 00:00:00
abstract::The environmental influence on human development can be studied by assessing similarities and discrepancies in developmental traits between biological and adopted siblings and twins, reared together and reared apart. Approximately 50% of total variance of general cognitive ability in a given population can be explaine...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752010000600009
更新日期:2010-12-01 00:00:00
abstract::Abdominal pain as an initial symptom of meningococcemia is an infrequent entity, rarely described in literature. We present a case of a 4 year-old, male, previously healthy child with a 24 hour history of fever and abdominal pain. He is admitted in a surgical unit with a diagnosis of acute abdomen for surgical resolut...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752008000300012
更新日期:2008-06-01 00:00:00
abstract::New information and communication technologies have had an impact on our lives in general, as well as in our health care and pediatric practice. Given this fact, it is essential to establish an initial framework for this type of interactions between physicians and patients in order to provide the necessary security to...
journal_title:Archivos argentinos de pediatria
pub_type: 指南
doi:10.5546/aap.2019.S175
更新日期:2019-08-01 00:00:00
abstract::In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have normal phenotype, but they may have infertility, abortions or children wi...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2018.e603
更新日期:2018-08-01 00:00:00
abstract::The Sociedad Argentina de Pediatría, SAP (Argentine Society of Pediatrics) offers courses and scientific activities for pediatricians and residents. We evaluated the participation of Pedro de Elizalde Hospital residents in the scientific and training activities of SAP and assessed the trend of participation throughout...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2012.154
更新日期:2012-04-01 00:00:00