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 factors type 1 and 2 and its transport proteins 3 and 5. ALS serum levels are lower in neonates, reach a peak in late puberty, and then slowly decrease throughout adulthood. ALS deficiency has consequences on growth, hydrocarbon and bone metabolism, and, in some cases, it affects pubertal development. To date, 25 patients with complete ALS deficiency due to IGFALS gene mutations have been found. :La subunidad ácido-lábil (acid-labile subunit; ALS, por sus siglas en inglés) es una glicoproteína de 85 kiloDalton (kD) que pertenece a la superfamilia de repeticiones ricas en leucina. Principalmente, circula en suero dentro de un complejo ternario de alto peso molecular. La principal y más estudiada función de la ALS es prolongar la vida media del complejo binario que forman los factores de crecimiento insulinosímil tipo 1 y 2 con sus proteínas de transporte 3 y 5. El nivel sérico de la ALS es menor en neonatos,aumenta para llegar a un pico en la pubertad tardía y luego disminuye lentamente durante la vida adulta. Su déficit tiene consecuencias sobre el crecimiento, el metabolismo hidrocarbonado, el óseo y, en algunos casos, en el desarrollo puberal. Hasta el momento, se han encontrado 25 pacientes con déficit completo de la ALS debido a mutaciones del gen IGFALS.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Zaidman VEdoi
10.5546/aap.2017.eng.391subject
Has Abstractpub_date
2017-08-01 00:00:00pages
391-398issue
4eissn
0325-0075issn
1668-3501journal_volume
115pub_type
杂志文章,评审abstract:INTRODUCTION:Vancomycin is used in pediatric patients usually at 40 mg/kg/day four times daily. Recent data demonstrated the need of large doses to reach therapeutic concentrations in critical patients. OBJECTIVE:Describe dosage regime of vancomycin in patients from a pediatric intensive care unit, register values of ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:
更新日期:2008-02-01 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::Contemporary medicine is characterized by an increasing subspecialization and the acquisition of a greater knowledge about the interaction among the different body structures (biosemiotics), both in health and disease. This article proposes a new conceptualization of the body based on considering it as a biological sp...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.eng.e449
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.eng.e153
更新日期:2017-06-01 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::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:INTRODUCTION:Cow's milk protein allergy is the most common allergy in pediatrics. Immunoglobulin E (IgE)-mediated cow's milk allergy poses a higher risk for life and a worse prognosis. OBJETIVES:To describe the course of IgE-mediated cow's milk protein allergy and risk factors associated with disease persistence. PAT...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.eng.331
更新日期:2017-08-01 00:00:00
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 ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752010000100016
更新日期:2010-02-01 00:00:00
abstract::The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical spectrum includes pre- and postnatal macrosomia, macroglossia, pinna abnormalities, abdominal wall defects, visceromegaly, and hyperinsulinemic hypoglycemia. Thi...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
doi:10.5546/aap.2018.eng.368
更新日期:2018-10-01 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: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::Toxocariasis canis or catis is a zoonotic infection disseminated in humans. Human beings can act as non-natural hosts in which the parasite can survive for long periods of time and they become infected by the ingestion of geohelminth eggs. These can be located on the ground, playgrounds and children's games, and are m...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2018.e753
更新日期:2018-12-01 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::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 la...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
doi:10.1590/S0325-00752008000200009
更新日期:2008-04-01 00:00:00
abstract:INTRODUCTION:When compared to popular questionnaires, accelerometry provides more reliable information regarding physical activity. Thus, the objective has been to document the variability of physical activity in Chilean children in relation to age, gender, nutritional status and days of the week, and to determine how ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2012.388
更新日期:2012-10-01 00:00:00
abstract::In 1988, Ouvrier and Billson described four children with a condition they termed "benign paroxysmal tonic upgaze syndrome". The clinical picture is characterized by the appearance, in the first months of life, of episodes of paroxysmal upgaze deviation of varying duration, and without alteration of consciousness. Fix...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752010000500012
更新日期:2010-10-01 00:00:00
abstract:INTRODUCTION:Antibiotics are the most prescribed drugs in pediatric intensive care units (PICU) with high impact in pathogens resistance and costs. OBJECTIVES:Evaluate prescription patterns and consumption of antibiotics. MATERIALS AND METHODS:From July 2006 to January 2007, monthly cross-sectional cuts were done on ...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752008000500007
更新日期:2008-10-01 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::Staphylococcus aureus is a major etiologic agent of infections in children from the community and the hospital setting. The severity of these conditions is associated with virulence factors, including the Panton-Valentine leukocidin. Both methicillin resistant and sensitive Staphylococcus aureus produce this leukocidi...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2016.e237
更新日期:2016-08-01 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::Maple syrup disease is an autosomal recessive entity caused by a congenital error in the metabolism of three essential branchedchain amino acids: valine, leucine and isoleucine. The neonatal form of this disease is expressed by a severe and progressive neurological compromise, associated with a peculiar smell of urine...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.e178
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To analyze mortality from suicide in children, adolescents and youth aged 5 to 24 years by gender, method used, place where the incident occurred and residence (province) in Argentina over the period 2005-2007. METHOD:Data of Statistical Death Reports were used. Mortality rates from suicide were estimated pe...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2013.16
更新日期:2013-01-01 00:00:00
abstract::Rhinosinusitis is a very common childhood condition. Osteomyelitis is an unusual complication, which mainly occurs in toddlers and young children. The most frequent etiologic agent is Staphylococcus aureus. Iniatially, it is characterized by fever, low eyelid edema, unilateral rhinorrhea and ipsilateral palatine edema...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2016.e87
更新日期:2016-04-01 00:00:00
abstract::Egg allergy is one of the most common food allergies during childhood along with cow's milk allergy. The measles-mumpsrubella (MMR) vaccine is included in the pediatric immunization schedule and contains egg protein. The currently accepted opinion is that the MMR vaccination should be done in a single dose under medic...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.eng.e89
更新日期:2017-04-01 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:In Argentina, hearing disability accounts for 18% of disabilities. Argentine Sign Language (ASL) is the communication system of choice used by deaf people (DP). An incorrect communication with physicians hampers the adequate provision of health care. DP require a professional ASL interpreter (PASLI) in the...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2018.eng.310
更新日期:2018-10-01 00:00:00
abstract::Incontinentia pigmenti (IP) is a rare genodermatosis. Skin lesions, that are present in all patients affected, evolve in stages. The first is the erythematous blistering stage, wich differential diagnosis includes a wide variety of diseases. We present a case of a female neonate with blisters present at birth, where t...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752011000300015
更新日期:2011-06-01 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::Standing at the crossroads of anthropology, communication, industrial design and new technology theories, this article describes the communication challenges posed during hospital emergencies resulting from linguistic and cultural differences between health care professionals and patients. In order to overcome communi...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2014.33
更新日期:2014-02-01 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