LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 48

Search options

  1. Article ; Online: Paternal age and risk for selected birth defects in a large South American sample.

    Gili, Juan A / Rittler, Monica / Heisecke, Silvina / Campaña, Hebe / Giménez, Lucas / Santos, María Rita / Ratowiecki, Julia / Cosentino, Viviana / López Camelo, Jorge / Poletta, Fernando A

    Birth defects research

    2023  Volume 115, Issue 19, Page(s) 1866–1875

    Abstract: Background: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been ... ...

    Abstract Background: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA.
    Objectives: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA.
    Methods: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables.
    Results: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed.
    Conclusions: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.
    MeSH term(s) Humans ; Male ; Anus, Imperforate/epidemiology ; Paternal Age ; Risk Factors ; South America/epidemiology ; Polydactyly/epidemiology
    Language English
    Publishing date 2023-09-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2104792-3
    ISSN 2472-1727
    ISSN (online) 2472-1727
    DOI 10.1002/bdr2.2252
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article: Gene-environment interactions and preterm birth predictors: A Bayesian network approach.

    Elias, Dario E / Santos, Maria R / Campaña, Hebe / Poletta, Fernando A / Heisecke, Silvina L / Gili, Juan A / Ratowiecki, Julia / Cosentino, Viviana R / Uranga, Rocio / Málaga, Diana Rojas / Oliveira Netto, Alice Brinckmann / Brusius-Facchin, Ana Carolina / Saleme, César / Rittler, Mónica / Krupitzki, Hugo B / Camelo, Jorge S Lopez / Gimenez, Lucas G

    Genetics and molecular biology

    2024  Volume 46, Issue 4, Page(s) e20230090

    Abstract: Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify gene-environment interactions associated with spontaneous PTB or its predictors. We carried out a retrospective case-control ... ...

    Abstract Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify gene-environment interactions associated with spontaneous PTB or its predictors. We carried out a retrospective case-control study including parental sociodemographic and obstetric data as well as newborn genetic variants of 69 preterm and 61 at term newborns born at a maternity hospital from Tucumán, Argentina, between 2005 and 2010. A data-driven Bayesian network including the main PTB predictors was created where we identified gene-environment interactions. We used logistic regressions to calculate the odds ratios and confidence intervals of the interactions. From the main PTB predictors (nine exposures and six genetic variants) we identified an interaction between low neighbourhood socioeconomic status and rs2074351 (PON1, genotype GG) variant that was associated with an increased risk of toxoplasmosis (odds ratio 12.51, confidence interval 95%: 1.71 - 91.36). The results of this exploratory study suggest that structural social disparities could influence the PTB risk by increasing the frequency of exposures that potentiate the risk associated with individual characteristics such as genetic traits. Future studies with larger sample sizes are necessary to confirm these findings.
    Language English
    Publishing date 2024-01-19
    Publishing country Brazil
    Document type Journal Article
    ZDB-ID 1445712-x
    ISSN 1678-4685 ; 1415-4757
    ISSN (online) 1678-4685
    ISSN 1415-4757
    DOI 10.1590/1678-4685-GMB-2023-0090
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  3. Article ; Online: Genetic susceptibility for retinopathy of prematurity and its associated comorbidities.

    Gimenez, Lucas G / Gili, Juan A / Elias, Darío E / Sagula, Rubén / Comas, Belén / Santos, María R / Campaña, Hebe / Poletta, Fernando A / Heisecke, Silvina L / Ratowiecki, Julia / Cosentino, Viviana R / Uranga, Rocío / Saleme, César / Negri, Mercedes / Rittler, Mónica / Zapata Barrios, Jorge / Krupitzki, Hugo B / López Camelo, Jorge S

    Pediatric research

    2024  

    Abstract: Background: Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants ...

    Abstract Background: Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants associated with ROP risk and its comorbidities in an Argentinian sample of premature infants.
    Methods: A sample of 437 preterm infants <33 weeks GA, born at a maternity hospital in Tucumán, Argentina, 2005-2010, was analyzed. Environmental factors, perinatal outcomes, and fourteen single nucleotide polymorphisms associated with ROP were evaluated, comparing ROP with non-ROP newborns. A lasso logistic regression was performed to select variables; then, a conditional logistic regression was used to identify ROP maternal and perinatal risk factors adjusting by maternal and gestational ages, respectively.
    Results: ROP maternal risk factors were alcohol intake, periodontal infections, and severe stress. Respiratory distress, sepsis, and intracranial hemorrhage were the ROP perinatal risk factors. Markers rs186085 of EPAS1 and rs427832 of AGTR1 were significantly associated with ROP newborns.
    Conclusion: We identified three maternal and three perinatal risk factors associated with ROP. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP.
    Impact: Genetic and environmental risk factors associated with ROP and its comorbidities are evaluated in a Latin American population. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP. Three maternal and three perinatal risk factors associated with ROP were also identified. A matrix of significant relationships among genetic markers and comorbidities is presented. Reported data may help develop more effective preventive measures for ROP in the Latin American region.
    Language English
    Publishing date 2024-02-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1038/s41390-024-03068-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  4. Article: Genealogical data in population medical genetics: Field guidelines.

    Poletta, Fernando A / Orioli, Ieda M / Castilla, Eduardo E

    Genetics and molecular biology

    2014  Volume 37, Issue 1 Suppl, Page(s) 171–185

    Abstract: This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ... ...

    Abstract This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given pedigree member and its two parents constitutes the building unit of a genealogy. Likewise, three ID numbers representing those three elements of the triad is the record field required for any pedigree analysis. Pedigree construction, as well as pedigree and population data analysis, varies according to the pre-established objectives, the existing information, and the available resources.
    Language English
    Publishing date 2014-03-05
    Publishing country Brazil
    Document type Journal Article ; Review
    ZDB-ID 1445712-x
    ISSN 1678-4685 ; 1415-4757
    ISSN (online) 1678-4685
    ISSN 1415-4757
    DOI 10.1590/s1415-47572014000200004
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  5. Article ; Online: Lethality of Birth Defects in Live Born Infants Categorized by Gestational Age and Birth Weight.

    Rittler, Monica / Campaña, Hebe / Heisecke, Silvina / Ratowiecki, Julia / Elias, Dario / Gimenez, Lucas / Poletta, Fernando A / Gili, Juan / Pawluk, Mariela / Santos, Maria Rita / Uranga, Rocio / Cosentino, Viviana / Camelo, Jorge Lopez

    American journal of perinatology

    2021  Volume 40, Issue 13, Page(s) 1406–1412

    Abstract: Objective: This study aimed to describe lethality of birth defects (BDs) in newborns categorized by gestational age and birth weight and to identify BDs associated with prematurity.: Study design: Live born infants (: Results: Overall fewer ... ...

    Abstract Objective: This study aimed to describe lethality of birth defects (BDs) in newborns categorized by gestational age and birth weight and to identify BDs associated with prematurity.
    Study design: Live born infants (
    Results: Overall fewer malformed than nonmalformed infants were of adequate growth, while the opposite occurred in the preterm and SGA categories where gastroschisis and esophageal atresia were among the most outstanding defects. For most severe BDs, the early neonatal death rate was higher than control values in all categories; for mild defects, except cleft lip in the preterm category, they did not differ. Diaphragmatic hernia showed the highest lethality values, while those of spina bifida were among the lowest. Talipes, hypospadias, and septal heart defects were mild defects significantly associated with prematurity.
    Conclusion: Although reasons, such as induced preterm delivery of fetuses with certain anomalies, could partially account for their high prematurity rates, susceptibility to preterm birth might exist through underlying mechanisms related with the defects. The identification of BDs associated with prematurity should serve to improve measures that prevent preterm birth especially of fetuses at risk.
    Key points: · Some BDs predispose to prematurity.. · Prematurity is an additional risk factor for mortality in infants with mild defects.. · Lethality values should be adjusted by gestational age and birth weight..
    MeSH term(s) Male ; Female ; Infant, Newborn ; Infant ; Humans ; Pregnancy ; Birth Weight ; Gestational Age ; Premature Birth ; Infant, Premature ; Infant, Small for Gestational Age ; Fetal Growth Retardation
    Language English
    Publishing date 2021-10-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 605671-4
    ISSN 1098-8785 ; 0735-1631
    ISSN (online) 1098-8785
    ISSN 0735-1631
    DOI 10.1055/s-0041-1735867
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article: Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population.

    Elias, Dario E / Santos, Maria R / Campaña, Hebe / Poletta, Fernando A / Heisecke, Silvina L / Gili, Juan A / Ratowiecki, Julia / Cosentino, Viviana / Uranga, Rocio / Málaga, Diana Rojas / Netto, Alice Brinckmann Oliveira / Brusius-Facchin, Ana Carolina / Saleme, César / Rittler, Mónica / Krupitzki, Hugo B / Camelo, Jorge S Lopez / Gimenez, Lucas G

    Journal of community genetics

    2022  Volume 13, Issue 6, Page(s) 557–565

    Abstract: Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify associations of spontaneous PTB with genetic variants, exposures, and interactions between and within them. We carried out a ... ...

    Abstract Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify associations of spontaneous PTB with genetic variants, exposures, and interactions between and within them. We carried out a retrospective case-control study including parental sociodemographic and obstetric data, and fetal genetic variants. We sequenced the coding and flanking regions of five candidate genes from the placental blood cord of 69 preterm newborns and 61 at term newborns. We identify the characteristics with the greatest predictive power of PTB using penalized regressions, in which we include exposures (E), genetic variants (G), and two-way interactions. Few prenatal visits (< 5) was the main predictor of PTB from 26 G, 35 E, 299 G × G, 564 E × E, and 875 G × E evaluated terms. Within the fetal genetic characteristics, we observed associations of rs4845397 (KCNN3, allele T) variant; G × G interaction between rs12621551 (COL4A3, allele T) and rs73993878 (COL4A3, allele A), which showed sensitivity to anemia; and G × G interaction between rs11680670 (COL4A3, allele T) and rs2074351 (PON1, allele A), which showed sensitivity to vaginal discharge. The results of this exploratory study suggest that social disparities and metabolic pathways linked to uterine relaxation, inflammation/infections, and collagen metabolism would be involved in PTB etiology. Future studies with a larger sample size are necessary to confirm these findings and to analyze a greater number of exposures.
    Language English
    Publishing date 2022-08-17
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2543127-4
    ISSN 1868-6001 ; 1868-310X
    ISSN (online) 1868-6001
    ISSN 1868-310X
    DOI 10.1007/s12687-022-00605-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article ; Online: A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

    Álvarez, Luis Francisco González / Tenorio-Castaño, Jair / Poletta, Fernando A / Santos-Simarro, Fernando / Arias, Pedro / Gallego, Natalia / Orioli, Iêda Maria / Mundlos, Stefan / Castilla, Eduardo E / Martínez-Glez, Víctor / Martínez-Frías, María Luisa / Ruiz-Pérez, Víctor L / Nevado, Julián / Lapunzina, Pablo

    American journal of medical genetics. Part A

    2022  Volume 191, Issue 1, Page(s) 100–107

    Abstract: We present a large, ten-generation family of 273 individuals with 84 people having preaxial polydactyly/triphalangeal thumb due to a pathogenic variant in the zone of polarizing activity regulatory sequence (ZRS) within the exon 5 of LMBR1. The causative ...

    Abstract We present a large, ten-generation family of 273 individuals with 84 people having preaxial polydactyly/triphalangeal thumb due to a pathogenic variant in the zone of polarizing activity regulatory sequence (ZRS) within the exon 5 of LMBR1. The causative change maps to position 396 of the ZRS, located at position c.423 + 4909C > T (chr7:156791480; hg38; LMBR1 ENST00000353442.10; rs606231153 NG_009240.2) in the intron 5 of LMBR1. The first affected individual with the disorder was traced back to mid-1700, when some settlers and workers established in Cervera de Buitrago, a small village about 82 km North to Madrid. Clinical and radiological studies of most of the affected members have been performed for 42 years (follow-up of the family by LFGA). Molecular studies have confirmed a pathogenic variant in the ZRS that segregates in this family. To the best of our knowledge, this is the largest family with preaxial polydactyly/triphalangeal thumb reported so far.
    MeSH term(s) Humans ; Membrane Proteins/genetics ; Pedigree ; Polydactyly/genetics ; Polydactyly/pathology ; Thumb/pathology
    Chemical Substances Membrane Proteins
    Language English
    Publishing date 2022-10-29
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62994
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Author Correction: Dental anomaly detection using intraoral photos via deep learning.

    Ragodos, Ronilo / Wang, Tong / Padilla, Carmencita / Hecht, Jacqueline T / Poletta, Fernando A / Orioli, Iêda M / Buxó, Carmen J / Butali, Azeez / Valencia-Ramirez, Consuelo / Muñeton, Claudia Restrepo / Wehby, George L / Weinberg, Seth M / Marazita, Mary L / Moreno Uribe, Lina M / Howe, Brian J

    Scientific reports

    2022  Volume 12, Issue 1, Page(s) 13541

    Language English
    Publishing date 2022-08-08
    Publishing country England
    Document type Published Erratum
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-022-17668-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: Dental anomaly detection using intraoral photos via deep learning.

    Ragodos, Ronilo / Wang, Tong / Padilla, Carmencita / Hecht, Jacqueline T / Poletta, Fernando A / Orioli, Iêda M / Buxó, Carmen J / Butali, Azeez / Valencia-Ramirez, Consuelo / Restrepo Muñeton, Claudia / Wehby, George L / Weinberg, Seth M / Marazita, Mary L / Moreno Uribe, Lina M / Howe, Brian J

    Scientific reports

    2022  Volume 12, Issue 1, Page(s) 11577

    Abstract: Children with orofacial clefting (OFC) present with a wide range of dental anomalies. Identifying these anomalies is vital to understand their etiology and to discern the complex phenotypic spectrum of OFC. Such anomalies are currently identified using ... ...

    Abstract Children with orofacial clefting (OFC) present with a wide range of dental anomalies. Identifying these anomalies is vital to understand their etiology and to discern the complex phenotypic spectrum of OFC. Such anomalies are currently identified using intra-oral exams by dentists, a costly and time-consuming process. We claim that automating the process of anomaly detection using deep neural networks (DNNs) could increase efficiency and provide reliable anomaly detection while potentially increasing the speed of research discovery. This study characterizes the use of` DNNs to identify dental anomalies by training a DNN model using intraoral photographs from the largest international cohort to date of children with nonsyndromic OFC and controls (OFC1). In this project, the intraoral images were submitted to a Convolutional Neural Network model to perform multi-label multi-class classification of 10 dental anomalies. The network predicts whether an individual exhibits any of the 10 anomalies and can do so significantly faster than a human rater can. For all but three anomalies, F1 scores suggest that our model performs competitively at anomaly detection when compared to a dentist with 8 years of clinical experience. In addition, we use saliency maps to provide a post-hoc interpretation for our model's predictions. This enables dentists to examine and verify our model's predictions.
    MeSH term(s) Child ; Cohort Studies ; Deep Learning ; Humans ; Neural Networks, Computer ; Photography, Dental
    Language English
    Publishing date 2022-07-08
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-022-15788-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article ; Online: Prevalence of low birth weight in a scenario of economic depression in Argentina.

    Ratowiecki, Julia / Poletta, Fernando A / Giménez, Lucas G / Gili, Juan A / Pawluk, Mariela S / López Camelo, Jorge S

    Archivos argentinos de pediatria

    2018  Volume 116, Issue 5, Page(s) 322–327

    Abstract: Introduction: Low birth weight (LBW) is considered a general indicator of health because it is related to complications in the life of a newborn infant and is one of the leading causes of infant mortality. It is a multifactorial indicator, and its ... ...

    Title translation Prevalencia del bajo peso al nacer en un escenario de depresión económica en Argentina.
    Abstract Introduction: Low birth weight (LBW) is considered a general indicator of health because it is related to complications in the life of a newborn infant and is one of the leading causes of infant mortality. It is a multifactorial indicator, and its determinants include socioeconomic factors.
    Objective: To assess the impact of economic inequality on the prevalence of LBW by quantifying its differential effect by maternal age, level of maternal education, and level of care.
    Population and methods: Epidemiological, cross-sectional study that analyzed all births occurred in Argentina between 2001 and 2013 based on data provided by the National Registry of births, corresponding to the Health Statistics and Information Department. The temporal variation in the prevalence of LBW newborn infants (< 2500 grams) and its relation to demographic and socioeconomic indicators were studied. Its association was assessed using logistic regression models.
    Results: A total of 9 001 960births were included. The prevalence of LBW newborn infants during the 2001 economic crisis increased -6% in 2002 and 7% in 2003- The impact was heterogeneous and higher on public hospitals (|-1;PR|-3; = 1.03) and adolescent mothers (PR=1.07), but no impact was observed on a low level of maternal education (PR= 0.99).
    Conclusions: The impact of socioeconomic inequality on the prevalence of LBW was significant and heterogeneous, especially on public hospitals and mothers at the extremes of maternal age.
    MeSH term(s) Adolescent ; Adult ; Argentina/epidemiology ; Child ; Cross-Sectional Studies ; Economic Recession ; Educational Status ; Female ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Logistic Models ; Maternal Age ; Middle Aged ; Mothers/statistics & numerical data ; Pregnancy ; Prevalence ; Registries ; Risk Factors ; Socioeconomic Factors ; Young Adult
    Language Spanish
    Publishing date 2018-09-08
    Publishing country Argentina
    Document type Journal Article
    ZDB-ID 424449-7
    ISSN 1668-3501 ; 0325-0075 ; 0004-0487
    ISSN (online) 1668-3501
    ISSN 0325-0075 ; 0004-0487
    DOI 10.5546/aap.2018.eng.322
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

To top