Wilson J.,University of Texas Southwestern Medical Center |
Rivarola M.,Garrahan Pediatric Hospital |
Mendonca B.,University of Sao Paulo |
Warne G.,Royal Melbourne Hospital |
And 4 more authors.
Seminars in Reproductive Medicine | Year: 2012
The birth of a child with ambiguous genitalia is a challenging and distressing event for the family and physician and one with life-long consequences. Most disorders of sexual differentiation (DSD) associated with ambiguous genitalia are the result either of inappropriate virilization of girls or incomplete virilization of boys. It is important to establish a diagnosis as soon as possible, for psychological, social, and medical reasons, particularly for recognizing accompanying life-threatening disorders such as the salt-losing form of congenital adrenal hyperplasia. In most instances, there is sufficient follow-up data so that making the diagnosis also establishes the appropriate gender assignment (infants with congenital adrenal hyperplasia, those with androgen resistance syndromes), but some causes of DSD such as steroid 5α-reductase 2 deficiency and 17β-hydroxysteroid dehydrogenase deficiency are associated with frequent change in social sex later in life. In these instances, guidelines for sex assignment are less well established. Copyright © 2012 by Thieme Medical Publishers, Inc. Source
Perez M.F.,University of Buenos Aires |
de Torres M.E.,University of Buenos Aires |
Bujan M.M.,Pediatrician and Dermatologist |
Lanoel A.,Garrahan Pediatric Hospital |
And 2 more authors.
Anais Brasileiros de Dermatologia | Year: 2011
Neonatal lupus erythematosus is a very rare disease, clinically characterized by skin lesions that resemble those of subacute or discoid lupus erythematosus and/or congenital heart block. Generally, when patients have skin manifestations, they have no cardiac defects and vice-versa; however, in 10% of cases these manifestations may coexist. Other findings may include hematologic, hepatic and neurological abnormalities. This condition is caused by the transplacental passage of maternal autoantibodies against Ro (95%), La and, less frequently, U1-ribonucleoprotein (U1-RNP). The present case report describes four patients with clinical, histopathological and immunological findings compatible with neonatal lupus erythematosus, their treatment and progress. © 2011 by Anais Brasileiros de Dermatologia. Source
Moreno F.,National Cancer Institute |
Lopez Marti J.,Garrahan Pediatric Hospital |
Palladino M.,Garrahan Pediatric Hospital |
Lobos P.,Italian Hospital |
And 2 more authors.
Pediatric Blood and Cancer | Year: 2016
Background: There are reports indicating a low incidence of neuroblastoma (NB) in some developing countries but no conclusive data are available from population-based studies at a national level. Purpose: To describe the incidence and survival of 971 patients with NB in Argentina with data from the National Pediatric Cancer Registry (ROHA), and the impact of age, gender, stage, regional, and socioeconomic indicators on outcome. Methods: All cases of NB reported to ROHA (2000–2012) were the subject of the analysis. Annual-standardized incidence rate (ASR) was calculated using the National Vital Statistics and survival was estimated. The extended human development index (EHDI) was used as the socioeconomic indicator. Results: ASR was 8.3/1,000,000 children (0–14 years) and remained stable along this period. Regional variation in ASR ranged from 3.4 in the Northwest to 9.8 in the Central region, being most marked in the first year of life. Five-year survival rate (SR) was 47%, with no sex difference. For patients older than 18 months, it was 36%, for stage IV 23%, for those born in the Northeast region 38%, and for those with an amplified MYCN 15%. Residents in provinces with a higher EHDI had a better 5-year survival (57% vs. 41% for lower EHDI) and higher ASR (12.3 vs. 5.6 for lower EHDI). Stage and MYCN status showed an independent inferior prognosis. Conclusions: ASR of NB in Argentina is lower than in developed countries, with considerable regional variation. SRs are also lower than in developed countries. © 2016 Wiley Periodicals, Inc. Source
Ciaccio M.,Garrahan Pediatric Hospital |
Gil S.,Garrahan Pediatric Hospital |
Guercio G.,Garrahan Pediatric Hospital |
Vaiani E.,Garrahan Pediatric Hospital |
And 5 more authors.
Hormone Research in Paediatrics | Year: 2010
Background: GH deficiency (GHD) and spine irradiation (SI) have been implicated in the mechanism of reduced adult height (AH) in childhood survivors of medulloblastoma. However, growth dynamics after tumor diagnosis and the effectiveness of rhGH on AH in comparison with rhGH-untreated survivors have not been reported. Aim: To follow height (H) SDS (HSDS) since tumor diagnosis and the effect of rhGH in GHD patients, comparing with GH-untreated GHD patients. Methods: 14 patients received rhGH treatment until AH (medulloblastoma GH-treated group, MGHGr). 19 patients refused rhGH therapy (GH-untreated control medulloblastoma group, MCGr). Standing H and sitting H (SitH) were measured. Results: In MGHGr, mean ± SD HSDS decreased from 0.09 ± 0.63 at tumor diagnosis to -1.38 ± 0.91 at diagnosis of GHD, and to -1.90 ± 0.72 at the onset of rhGH, p < 0.01, but it remained unchanged during rhGH (AH -2.12 ± 0.55). MCGr HSDS (-0.25 ± 0.88) was not different from MGHGr at tumor diagnosis, but it was -3.40 ± 0.88 at AH, significantly lower than in MGHGr, p = 0.001. SitH SDS at AH (-4.56 ± 0.82) was significantly lower than at the onset of rhGH (-2.86 ± 0.75), p = 0.003, and it was not different from MCGr (-4.85 ± 1.77). Conclusions: rhGH treatment improves AH in GH-deficient childhood medulloblastoma survivors but not spinal growth. Copyright © 2010 S. Karger AG, Basel. Source