A5076712711- Congenital Anomalies and Fetal Surgery
- Congenital Heart Disease Studies
- Craniofacial Disorders and Treatments
- Maternal and Neonatal Healthcare
- Congenital Diaphragmatic Hernia Studies
- Mosquito-borne diseases and control
- Cleft Lip and Palate Research
- Bone and Dental Protein Studies
- Urological Disorders and Treatments
- Global Maternal and Child Health
- Fetal and Pediatric Neurological Disorders
- Hedgehog Signaling Pathway Studies
- dental development and anomalies
- Neurogenetic and Muscular Disorders Research
- Molecular Biology Techniques and Applications
- Tracheal and airway disorders
- Virology and Viral Diseases
- Tumors and Oncological Cases
- Infectious Encephalopathies and Encephalitis
- Parvovirus B19 Infection Studies
- Prenatal Screening and Diagnostics
- Genetic and Kidney Cyst Diseases
- Glycogen Storage Diseases and Myoclonus
- Metabolism, Diabetes, and Cancer
- Medical Imaging and Pathology Studies
Pontificia Universidad Javeriana
2014-2024
Fundación Instituto de Inmunología de Colombia
2022
Caucaseco Scientific Research Center
2014-2021
Universidad Nacional de Córdoba
2019
Mexican Social Security Institute
2018
Hospital Universitario San Ignacio
2017
Universidad del Valle
2010
Fundación Chile
2006
Abstract The aim of the study is to determine prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) 18 (T18), by congenital anomaly register region. Twenty‐four population‐ hospital‐based birth defects surveillance registers from countries, contributed data on T13 T18 between 1974 2014 using a common data‐reporting protocol. mean total prevalence (i.e., LB, stillbirths, elective termination pregnancy for fetal anomalies [ETOPFA]) ETOPFA (...
Abstract Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) familial 8) CFM, identifying a highly significant burden loss function variants in SF3B2 (P 3.8 × 10 −10 ), component U2 small nuclear ribonucleoprotein complex, probands. describe twenty individuals from seven harboring de novo transmitted haploinsufficient . Probands display...
Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate prevalence and time trends gastroschisis among programs in International Clearinghouse for Birth Defects Surveillance Research (ICBDSR), focusing on regional variations maternal age changes population.
PURPOSE: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for approximately 5-10% of all diagnosed breast ovarian cancers. cancer the most common malignancy leading cause cancer-related mortality among women in Latin America (LA). The main objective this study was to develop a comprehensive understanding genomic epidemiology HBOC throughout establishment American consortium HBOC-LACAM, consisting specialists from 5 countries LA description results first phase study....
Abstract Purpose We examined the total prevalence, trends in and age‐specific mortality among individuals with anorectal malformation ( ARM ) Methods conducted a retrospective cohort study using data from 24 population‐ hospital‐based birth defects surveillance programs affiliated International Clearinghouse for Birth Defects Surveillance Research ICBDSR 18 countries births 1974 to 2014. estimated pooled program‐specific prevalence per 10,000 births. Poisson regression was used assess time...
Abstract Background Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal postnatal mortality for individuals bifida remains. Objectives To examine stillbirth infant child affected by using data from multiple countries. Methods We conducted an observational study, 24 population‐ hospital‐based surveillance registries 18 countries contributing as members the International Clearinghouse Birth...
Omphalocele is the second most common abdominal birth defect and often occurs with other structural genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, mortality during early childhood, by geographical region, presence associated anomalies.We conducted a retrospective 23 surveillance systems in 18 countries who are members International Clearinghouse for Birth Defects Surveillance Research that submitted data on cases ascertained from 2000...
Abstract Background Cleft lip with cleft palate (CLP) is a congenital condition that affects both the oral cavity and lips. This study estimated prevalence mortality of CLP using surveillance data collected from birth defect registries around world. Methods Data 22 population‐ hospital‐based programs affiliated International Clearinghouse for Birth Defects Surveillance Research (ICBDSR) in 18 countries on live births (LB), stillbirths (SB), elective terminations pregnancy fetal anomaly...
Abstract Background Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, comprises a variable phenotype with most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, renal abnormalities. The etiology of CFM is largely unknown. MYT1 gene has been reported candidate based mutations found three unrelated individuals. Additional patients this are required...
Abstract The early detection of congenital anomaly epidemics occurs when comparing current with previous frequencies in the same population. success epidemiologic surveillance depends on numerous factors, including accuracy rates available base period, wide population coverage, and short periodicity analysis. This study aims to describe Latin American network malformation surveillance: ReLAMC, created increase America. We main steps, tasks, strategies used, preliminary results. From 2017...
Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment the mandible, maxilla, orbit, facial soft tissue, and/or nerve. The genetic causes CFM remain largely unknown.
Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. In 2016, rates of appeared start increasing around May, peaking in July, declining through December. The occurrence appears have increased nearly 4-fold 2 large cities Colombia, concurrently with the reported epidemic country.
Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants EA are locally or regionally based. We aimed to describe across multiple world regions.We included diagnosed between 1980 and 2015 from 24 birth defects surveillance programs that members the International Clearinghouse for Birth Defects Surveillance Research. calculated as proportion liveborn alive at 1...
Introduction: Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality affected patients, consequent untimely child death. In contrast classical methods, tandem mass spectrometry (MS/MS) has allowed simultaneous evaluation multiple metabolites associated with IEM offering higher sensitivity, low false positive rates high throughput. Aims: Determine concentration levels for amino acids acylcarnitines...
Among congenital craniofacial anomalies, orofacial clefts (OFCs) are the most common. Global prevalence is 2 in 1000 and Colombia, 1 700. Our goal was to describe cleft palate (CP) lip with or without (CL±P) from 2001 2015 Bogota Cali, Colombia.Using ECLAMC case-control design method, information obtained Congenital Anomalies Monitoring Surveillance Programs Cali. We of cases classified into following groups: isolated, polymalformed, syndromic. The proportion controls 1:4. Data were analyzed...
Birth defects contribute up to 21% of the mortality in those under 5 years age Latin America and Caribbean (LAC), that burden has been compounded by Zika virus epidemic. In 2001, March Dimes launched a series biennial assemblies called International Conference on Defects Disabilities Developing World (ICBD). The latest ICBD, 2017, convened Bogotá, Colombia, was attended over 300 professionals, policymakers, donors. conference attendees, majority whom were from LAC, supported call action form...
Congenital anomalies affect 2 to 3% of live births in Colombia and they are currently the leading cause death children under 1 year age Bogotá, third Cali. a major factor contributing fetal infant mortality morbidity world. Some congenital can be detected by obstetric ultrasonography, thus helping decide on best way manage them.To determine rate detection ultrasound false positive comparing infants born with birth defects Bogota Cali treated at health care facilities different levels...
Abstract Objective: CHDs correspond to 28% of all congenital anomalies, being the leading cause infant mortality in first year life. Thus, it is essential explore risk factors for presentation, allowing detection probable cases within a population. Methods: We identified newborns with cohort from Program Prevention and Monitoring Congenital Defects Bogota Cali, 2002–2020. Cases were classified as isolated, complex polymalformed, syndromic. Variables analysed by comparing case control...
Introduction: Congenital anomalies affect 2 to 3% of live births in Colombia and they are currently the leading cause death children under 1 year age Bogotá, third inchildren Cali. a major factor contributing fetal infant mortality morbidity world. Some congenital can be detected by obstetricultrasonography, thus helping decide on best way manage them.Objective: To determine rate detection obstetric ultrasound false positive comparing infants born with birth defects Bogota Cali treated at...
Background Cervical cancer (CC) promotion and prevention (P&P) programmes’ challenge lies in guaranteeing that follow-up strategies have a real impact on reducing CC-related mortality rates. CC P&P programme compliance coverage rates are relevant indicators for evaluating their success good performance; however, such indicators’ frequency considerably lower among women living rural border areas. This study was aimed at identifying factors associated with screening attendance...
Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of study to examine total prevalence, trends in age-specific mortality among individuals with BE.