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 with congenital malformations. The reciprocal translocation between chromosomes 2 and 9 can lead to offspring with monosomies and trisomies of these chromosomes. Short arm monosomy of chromosome 9 may present delayed psychomotor development, trigonocephaly, facial dysmorphia and genital abnormalities. We reviewed GTG karyotype records from our Institution to identify cases with chromosomes 2 and/or 9 alterations from 2005 to 2014. We describe two cases with monosomy 9p secondary to a translocation between chromosomes 2 and 9. The patients share features of monosomy 9p24-pter, however the genotypephenotype correlation is complex due to the extension of the involved segments. We emphasize the importance of chromosomal diagnosis to offer genetic assessment. :En pacientes con malformaciones congénitas y retraso del desarrollo psicomotor, deben descartarse cromosomopatías. Las más frecuentes son las translocaciones recíprocas balanceadas, presentes en 1:500 recién nacidos vivos. Por lo general, los portadores tienen fenotipo normal, aunque, ocasionalmente, presentan infertilidad, abortos o hijos con malformaciones. La translocación balanceada entre los cromosomas 2 y 9 puede originar descendencia con monosomías y trisomías de estos cromosomas. La monosomía del brazo corto del cromosoma 9 puede presentarse con trigonocefalia, dismorfias faciales, anomalías genitales y retraso del desarrollo psicomotor. En este trabajo, se revisaron las alteraciones de los cromosomas 2 y/o 9 en los cariotipos realizados en nuestra Institución en 2005-2014. Se presentan dos pacientes con monosomía 9p asociada a translocación (2;9). Las pacientes comparten datos de monosomía 9p24-pter; la correlación genotipo-fenotipo es compleja por el tamaño de los segmentos involucrados. Se resalta la importancia del diagnóstico cromosómico para el asesoramiento genético.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
León-Carlos NY,García-Delgado C,Morales-Jiménez AB,Serrano-Bello C,Cervantes A,Morán Barroso VFdoi
10.5546/aap.2018.e603subject
Has Abstractpub_date
2018-08-01 00:00:00pages
e603-e608issue
4eissn
0325-0075issn
1668-3501journal_volume
116pub_type
杂志文章abstract:INTRODUCTION:The administration of the National Screening Test (PruebaNacional de Pesquisa, PRUNAPE), a tool which is effective to screen inapparent developmental disorders in children under 6 years old, requires adequate training, time, space and furniture. A simple questionnaire to help screen large population groups...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2013.476
更新日期:2013-12-01 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::Hand-foot-and-mouth disease (HFMD) is a common childhood exanthem. Various types of lesions and widespread distribution in atypical cases have been described, but data on the predilection of lesion localizations in atypical cases are insufficient. We aimed to describe the demographic features of patients with HFMD, an...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2015.e211
更新日期:2015-08-01 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::Onychocryptosis (onyx: nail and kriptos: hidden) is the main reason for consultation due to nail pain. It is secondary to the penetration of the lateral border of the nail plate into the lateral nail fold causing pain and inflammation in the surrounding tissue. Symptoms range from erythema, edema, and pain when pressu...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752010000300011
更新日期:2010-06-01 00:00:00
abstract::If newborns have an airway obstruction, they require urgent and expert management to avoid mortality and morbidity. The definition of difficult airway includes problems in endotracheal intubation or positive pressure ventilation with bag and mask or T-piece resuscitator. Management should be based on an understanding ...
journal_title:Archivos argentinos de pediatria
pub_type:
doi:10.5546/aap.2021.e45
更新日期:2021-02-01 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::Preterm infants are born with immature organs, thus affecting the immune system. Electromagnetic fields influence melatonin production with low exposure levels. These infants require medical equipment 24/7 to recover, so they are constantly exposed to magnetic fields during their stay in the Intensive Care Unit. Our o...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.eng.e246
更新日期:2020-06-01 00:00:00
abstract::In Argentina there are more than 9000 children without parental care due to prior abuse or neglect, assisted in foster child care facilities. The quality of care provided there impacts on the well-being of children and on multiple aspects of their adult life. Prevention in health in this setting has its own characteri...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2019.eng.e598
更新日期:2019-12-01 00:00:00
abstract::This article proposes to define child rearing as a social and cultural process that, far from depicting universal and invariable characteristics, shows a huge diversity, mostly linked to the cultural features of families and communities in charge of such process. It has been considered that the anthropological perspec...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.eng.e379
更新日期:2020-08-01 00:00:00
abstract:INTRODUCTION:Acute respiratory infections (ARI) are a major cause of hospitalization particularly at the extreme ages of life. OBJECTIVES:To determine the viral diagnosis in children < 5 years old with ARI, seasonality, clinical and epidemiological characteristics. POPULATION AND METHODS:A cross-sectional, descriptiv...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,多中心研究
doi:10.1590/S0325-00752011000400004
更新日期:2011-08-01 00:00:00
abstract::In the past two years, different organizations have updated their clinical practice guidelines for hemodynamic support in pediatric septic shock. The studies conducted in adults have questioned the initial management of sepsis in accordance to protocols based on achieving various goals. However, the usefulness of thes...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,评审
doi:10.5546/aap.2019.eng.e14
更新日期:2019-02-01 00:00:00
abstract:OBJETIVE:To design and validate an instrument to assess the relevance of educational programs for parents of children with congenital heart disease (CHD) undergoing cardiac surgery. MATERIAL AND METHOD:In October 2011, an instrument was designed based on Kaufman's model and on the bibliography, and a survey was develo...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2017.eng.439
更新日期:2017-10-01 00:00:00
abstract:INTRODUCTION:Food allergies affect mostly children in their first years of life. Epidemiological data obtained in Argentina are scarce. OBJECTIVES:To determine offending foods and describe the prevalence and characteristics of patients with food allergy in an Argentine pediatric population. PATIENTS AND METHODS:Obser...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2020.eng.418
更新日期:2020-12-01 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:INTRODUCTION:Physicians' empathy is an advantage for a better patient care and resolution of disease, and is considered a relevant part of professional training. OBJECTIVE:To measure the level of empathy and its components in medical students of the city of Córdoba, Argentina. METHODS:This was an exploratory, cross-s...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2019.eng.81
更新日期:2019-04-01 00:00:00
abstract:INTRODUCTION:Balance is one of the main problems of children with developmental coordination disorder (DCD). According to process-oriented approach, besides strength training, neuromuscular adaptations can improve balance. OBJETIVE:To evaluate the effects of strength training on improving static and dynamic balance in...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章,随机对照试验
doi:10.5546/aap.2016.eng.526
更新日期:2016-12-01 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: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::Botulism is a rare illness caused by a potent neurotoxin produced by the bacterium of the Clostridium family. Clostridium botulinum is the most frequent one, but Clostridium baratti and Clostridium butyricum are also neurotoxins producers. There are seven neurotoxins types, A to G; A, B, E, F and G cause human botulis...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2014.e50
更新日期:2014-04-01 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::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 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
abstract:INTRODUCTION:This study was performed to investigate the value of acute phase reactants and LightCycler® SeptiFast test to differentiate bacterial and viral infections. POPULATION AND METHODS:Children with fever were enrolled to this prospective study. Peripheral white blood cell (WBC), C-reactive protein (CRP) and pr...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.5546/aap.2018.eng.35
更新日期:2018-02-01 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::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::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:INTRODUCTION:Despite the impact that training in research could have in postgraduate programs, certain specific knowledge of the trainees may increase their scientific production. We described the scientific production of a pediatric residency, and evaluated its association with specific knowledges and activities. MET...
journal_title:Archivos argentinos de pediatria
pub_type: 杂志文章
doi:10.1590/S0325-00752009000100007
更新日期:2009-02-01 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::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