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Article ; Online: Genética médica a los 80 años del HMIRS. Sus funciones en un contexto perinatal

Mónica Rittler

Revista del Hospital Materno Infantil Ramón Sardá, Vol 33, Iss 2, Pp 78-

2014 Volume 79

Keywords	Pediatrics ; RJ1-570 ; Medicine ; R ; Gynecology and obstetrics ; RG1-991
Language	Spanish
Publishing date	2014-01-01T00:00:00Z
Publisher	Asociación de Profesionales del Hospital Materno Infantil Ramón Sardá
Document type	Article ; Online
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Article ; Online: A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

Mendez, Rodrigo / Delea, Marisol / Dain, Liliana / Rittler, Monica

Clinical dysmorphology

2019 Volume 29, Issue 1, Page(s) 42–45

MeSH term(s)	Blepharophimosis/genetics ; Blepharophimosis/pathology ; Congenital Hypothyroidism/genetics ; Congenital Hypothyroidism/pathology ; Facies ; Frameshift Mutation ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Histone Acetyltransferases/genetics ; Humans ; Infant, Newborn ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Joint Instability/genetics ; Joint Instability/pathology ; Male ; Whole Exome Sequencing
Chemical Substances	Histone Acetyltransferases (EC 2.3.1.48) ; KAT6B protein, human (EC 2.3.1.48)
Language	English
Publishing date	2019-04-01
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000270
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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
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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
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Article ; Online: Riesgos para defectos congénitos en los extremos de la edad reproductiva

Mónica Rittler

Revista del Hospital Materno Infantil Ramón Sardá, Vol 24, Iss 1, Pp 26-

2005 Volume 30

Keywords	Pediatrics ; RJ1-570 ; Medicine ; R ; Gynecology and obstetrics ; RG1-991
Language	Spanish
Publishing date	2005-01-01T00:00:00Z
Publisher	Asociación de Profesionales del Hospital Materno Infantil Ramón Sardá
Document type	Article ; Online
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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
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Article ; Online: Cribado combinado para la detección de aneuploidías en el primer trimestre del embarazo en una maternidad publica

Noelia, Kopuchian / Silvana , Naddeo / Andrea, Faganelli, / Mónica, Ingilde / Mónica, Rittler

Revista Argentina de Salud Pública, Vol 9, Iss 35, Pp 7-

2018 Volume 11

Abstract: El cribado combinado del primer trimestre de embarazo es la mejor forma de seleccionar aquellos casos en los cuales el niño por nacer tiene un riesgo significativamente elevado de padecer ciertas aneuploidías. Sin embargo, se desconoce el impacto de este ...

Abstract	El cribado combinado del primer trimestre de embarazo es la mejor forma de seleccionar aquellos casos en los cuales el niño por nacer tiene un riesgo significativamente elevado de padecer ciertas aneuploidías. Sin embargo, se desconoce el impacto de este estudio en las usuarias de hospitales públicos, en un país donde la legislación prohíbe el aborto. OBJETIVOS: Evaluar la información previa y la comprensión del consentimiento informado para la realización de este estudio en la población que asiste a un hospital público. METODOS: Se realizó una investigación exploratoria, observacional, transversal y cuantitativa, con mujeres embarazadas de menos de 14 semanas que controlan su embarazo en un hospital público. Se utilizó una encuesta diseñada a través de grupos focales. RESULTADOS: La muestra quedó constituida por 148 casos. En el 99,3% de los casos las mujeres embarazadas identificaron ventajas de someterse a este estudio. El 51,7% manifestó desconocer la legislación vigente, que impide finalizar un embarazo si el feto posee una condición que no es incompatible con la vida extrauterina. El 55,4% demostró comprender el carácter probabilístico y no diagnóstico del cribado. CONCLUSIONES: El cribado de primer trimestre fue bien aceptado y sus ventajas, ampliamente reconocidas por las usuarias. Sin embargo, la información —si bien suficiente— no fue enteramente adecuada para toda la población.
Keywords	Medicine (General) ; R5-920 ; Public aspects of medicine ; RA1-1270
Language	Spanish
Publishing date	2018-05-01T00:00:00Z
Publisher	Ministerio de Salud
Document type	Article ; Online
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Article ; Online: Diseases during pregnancy in a large unselected South American sample.

Santos, María Rita / Campaña, Hebe / Heisecke, Silvina / Ratowiecki, Julia / Elías, Darío / Giménez, Lucas / Poletta, Fernando Adrián / Gili, Juan / Uranga, Rocío / Cosentino, Viviana / Krupitzki, Hugo / Rittler, Mónica / Camelo, Jorge López

Revista brasileira de epidemiologia = Brazilian journal of epidemiology

2022 Volume 25, Page(s) e220043

Abstract: Objective: Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an ... ...

Abstract	Objective: Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an unselected sample of women who gave birth in South American countries. Methods: We conducted a descriptive, cross-sectional study including 56,232 mothers of non-malformed infants born between 2002 and 2016, using data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC). Diseases with higher- than-expected PTB/SGA frequencies were identified. Odds ratios of confounding variables for diseases and birth outcomes were calculated with a multivariable logistic regression. Results: Of the 14 most reported diseases, hypertension, genitourinary infection, epilepsy, hypothyroidism, diabetes, and HIV/AIDS showed higher PTB and/or SGA frequencies. Advanced and low maternal age, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with PTB, while advanced maternal age, primigravidity, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with SGA. After adjusting for the associated variables, the identified illnesses maintained their association with PTB and all, except epilepsy, with SGA. Conclusion: The description of an unselected population of mothers allowed identifying the most frequent diseases occurring during gestation and their impact on pregnancy outcomes. Six diseases were associated with PTB and two with SGA newborns. To the best of our knowledge, there are no similar reports about women not intentionally selected by specific diseases during pregnancy in South American populations.
MeSH term(s)	Infant, Newborn ; Female ; Humans ; Pregnancy ; Cross-Sectional Studies ; Brazil
Language	English
Publishing date	2022-12-05
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	2183366-7
ISSN	1980-5497 ; 1980-5497
ISSN (online)	1980-5497
ISSN	1980-5497
DOI	10.1590/1980-549720220043
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Article ; Online: Genética. El estado del arte

Mónica Rittler

Revista del Hospital Materno Infantil Ramón Sardá, Vol 22, Iss 2, Pp 82-

2003 Volume 95

Keywords	Pediatrics ; RJ1-570 ; Medicine ; R ; Gynecology and obstetrics ; RG1-991
Language	Spanish
Publishing date	2003-01-01T00:00:00Z
Publisher	Asociación de Profesionales del Hospital Materno Infantil Ramón Sardá
Document type	Article ; Online
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Article ; Online: Diseases during pregnancy in a large unselected South American sample

María Rita Santos / Hebe Campaña / Silvina Heisecke / Julia Ratowiecki / Darío Elías / Lucas Giménez / Fernando Adrián Poletta / Juan Gili / Rocío Uranga / Viviana Cosentino / Hugo Krupitzki / Mónica Rittler / Jorge López Camelo

Revista Brasileira de Epidemiologia, Vol

2022 Volume 25

Abstract: ABSTRACT Objective: Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an ... ...

Abstract	ABSTRACT Objective: Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an unselected sample of women who gave birth in South American countries. Methods: We conducted a descriptive, cross-sectional study including 56,232 mothers of non-malformed infants born between 2002 and 2016, using data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC). Diseases with higher- than-expected PTB/SGA frequencies were identified. Odds ratios of confounding variables for diseases and birth outcomes were calculated with a multivariable logistic regression. Results: Of the 14 most reported diseases, hypertension, genitourinary infection, epilepsy, hypothyroidism, diabetes, and HIV/AIDS showed higher PTB and/or SGA frequencies. Advanced and low maternal age, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with PTB, while advanced maternal age, primigravidity, previous fetal loss, low socioeconomic level, and African-American ancestry were associated with SGA. After adjusting for the associated variables, the identified illnesses maintained their association with PTB and all, except epilepsy, with SGA. Conclusion: The description of an unselected population of mothers allowed identifying the most frequent diseases occurring during gestation and their impact on pregnancy outcomes. Six diseases were associated with PTB and two with SGA newborns. To the best of our knowledge, there are no similar reports about women not intentionally selected by specific diseases during pregnancy in South American populations.
Keywords	Pregnancy ; Disease ; Pregnancy complications ; infectious ; Chronic disease ; Infant ; small for gestational age ; premature ; Public aspects of medicine ; RA1-1270
Subject code	610
Language	English
Publishing date	2022-12-01T00:00:00Z
Publisher	Associação Brasileira de Pós-Graduação em Saúde Coletiva
Document type	Article ; Online
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