Publications by authors named "Jorge Santiago Lopez-Camelo"

Article Synopsis
  • Congenital hydrocephalus (CH) is a diverse set of birth defects with varying prevalence, and this study aimed to analyze the early neonatal case fatality rate (CFR) and total birth prevalence (BPR) among newborns with CH using data from 25 international registries from 2000 to 2014.
  • The study found that the early neonatal CFR was 5.9 per 100 liveborn CH cases, with syndromic cases having a significantly higher CFR than non-syndromic cases (10.4% vs. 4.4%).
  • Although there were substantial differences in CFR and BPR across registries, higher CFR often correlated with higher BPR; however, most
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Objective: The aim of this study was to analyze the effects of individual low socioeconomic status (SES) and deprived geographical area (GA) on the occurrence of isolated cleft lip with or without cleft palate (CL±P) in Argentina.

Methods: This case-control study included 577 newborns with isolated CL±P and 13 344 healthy controls, born between 1992 and 2001, from a total population of 546 129 births in 39 hospitals in Argentina. Census data on unsatisfied basic needs were used to establish the degree of geographical area deprivation.

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Background: The birth prevalence rate (BPR) of congenital anomalies (CAs) is heterogeneous and exhibits geographical and sociocultural variations throughout the world. In South America (SA), high birth prevalence regions of congenital anomalies have been observed. The aim of this study was to identify, describe, and characterize geographical clusters of congenital anomalies in SA.

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Background: Minor anomalies (mAs) are morphological features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs).

Objectives: To identify the preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs.

Study Design: Information of newborns with birth defects was obtained from the ECLAMC (Latin American Collaborative Study of Congenital Malformations) database.

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Background : There is disagreement about the association between cleft lip with or without cleft palate and multigravidity, which could be explained by differences of adjusting for maternal age, Amerindian ancestry, and socioeconomic status. Objective : The aim was to evaluate gravidity 4+ (four or more gestations) as a risk factor for cleft lip with or without cleft palate in South America. Design : We used a matched (1:1) case-control study with structural equation modeling for related causes.

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Article Synopsis
  • Retinoblastoma (RB) is a childhood cancer linked to the loss of both RB1 alleles, with additional involvement of MDM2 and MDM4 genes in tumor development.
  • A study genotyped specific genetic variants in MDM2 and MDM4 among 104 RB patients and 104 controls, revealing that certain alleles may affect disease progression and survival rates.
  • Findings suggest that specific MDM2 and MDM4 genetic variations could influence both the likelihood of developing RB and the outcomes for affected patients.
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Background: To assess spina bifida birth prevalence changes after folic acid fortification of wheat and maize flours began in Brazil in June 2004.

Methods: Cross-sectional study of Brazilian live births in 2004 and 2006. Spina bifida birth prevalence from the Live Births Information System (SINASC: Sistema de Informações sobre Nascidos Vivos) in a prefortified period was compared to a period fortified with folic acid in each state.

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