Genetic susceptibility for retinopathy of prematurity and its associated comorbidities.

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.

Paternal age and risk for selected birth defects in a large South American sample.

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.

A multi-program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse for Birth Defects Surveillance and Research programs, 1974-2014.

BACKGROUND: Cleft lip with cleft palate (CLP) is a congenital condition that affects both the oral cavity and the lips. This study estimated the prevalence and mortality of CLP using surveillance data collected from birth defect registries around the world. METHODS: Data from 22 population- and hospital-based surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) in 18 countries on live births (LB), stillbirths (SB), and elective terminations of pregnancy for fetal anomaly (ETOPFA) for CLP from 1974 to 2014 were analyzed. Prevalence and survival (survival for LB only) estimates were calculated for total and subclassifications of CLP and by pregnancy outcome. RESULTS: The pooled prevalence of total CLP cases was 6.4 CLP per 10,000 births. The prevalence of CLP and all of the pregnancy outcomes varied across programs. Higher ETOPFA rates were recorded in most European programs compared to programs in other continents. In programs reporting low ETOPFA rates or where there was no ascertainment of ETOPFA, the rate of CLP among LB and SB was higher compared to those where ETOPFA rates were ascertained. Overall survival for total CLP was 91%. For isolated CLP, the survival was 97.7%. CLP associated with multiple congenital anomalies had an overall survival of 77.1%, and for CLP associated with genetic/chromosomal syndromes, overall survival was 40.9%. CONCLUSIONS: Total CLP prevalence reported in this study is lower than estimates from prior studies, with variation by pregnancy outcomes between programs. Survival was lower when CLP was associated with other congenital anomalies or syndromes compared to isolated CLP.

Prevalence and mortality among children with anorectal malformation: A multi-country analysis.

PURPOSE: We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.

A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy.

OBJECTIVE: Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE. STUDY DESIGN: We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364, 1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status. RESULTS: The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available. CONCLUSIONS: Prevalence of BE varied by program and showed a decreasing trend from 2000 to -2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life. KEY POINTS: · Total prevalence of BE was 2.58 per 100,000 births.. · Prevalence decreased from 2000 to 2014.. · The first-week mortality was 9.3%..

Analysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000-2014 multi-country registry-based study.

BACKGROUND: Congenital hydrocephalus (CH) comprises a heterogeneous group of birth anomalies with a wide-ranging prevalence across geographic regions and registry type. The aim of the present study was to analyze the early neonatal case fatality rate (CFR) and total birth prevalence of newborns diagnosed with CH. METHODS: Data were provided by 25 registries from four continents participating in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) on births ascertained between 2000 and 2014. Two CH rates were calculated using a Poisson distribution: early neonatal CFR (death within 7 days) per 100 liveborn CH cases (CFR) and total birth prevalence rate (BPR) per 10,000 births (including live births and stillbirths) (BPR). Heterogeneity between registries was calculated using a meta-analysis approach with random effects. Temporal trends in CFR and BPR within registries were evaluated through Poisson regression modeling. RESULTS: A total of 13,112 CH cases among 19,293,280 total births were analyzed. The early neonatal CFR was 5.9 per 100 liveborn cases, 95% confidence interval (CI): 5.4-6.8. The CFR among syndromic cases was 2.7 times (95% CI: 2.2-3.3) higher than among non-syndromic cases (10.4% [95% CI: 9.3-11.7] and 4.4% [95% CI: 3.7-5.2], respectively). The total BPR was 6.8 per 10,000 births (95% CI: 6.7-6.9). Stratified by elective termination of pregnancy for fetal anomalies (ETOPFA), region and system, higher CFR were observed alongside higher BPR rates. The early neonatal CFR and total BPR did not show temporal variation, with the exception of a CFR decrease in one registry. CONCLUSIONS: Findings of early neonatal CFR and total BPR were highly heterogeneous among registries participating in ICBDSR. Most registries with higher CFR also had higher BPR. Differences were attributable to type of registry (hospital-based vs. population-based), ETOPFA (allowed yes or no) and geographical regions. These findings contribute to the understanding of regional differences of CH occurrence and early neonatal deaths.

Neonatal anthropometry of malformed newborns: A large South American population-based study.

BACKGROUND: Population-based anthropometric evaluation of malformed newborns is scarce. OBJECTIVES: To evaluate malformed newborns' foetal growth using the ICD 10 malformations' classification. METHODS: A study including 33,769 newborns (14,857 malformed and 18,912 nonmalformed), selected from 678,840 births from nine South American countries, period 2010-2018, was conducted. Prevalence of severe small and small for gestational age was calculated for malformed and nonmalformed newborns classified by preterm birth categories. Prevalence and relative risk (RR) with its 95% confidence interval (CI) were calculated. The associations between anthropometric phenotypes and congenital malformations were evaluated with generalized linear models. RESULTS: Prevalence of preterm and term severe small and small for gestational age newborns was higher in malformed than that in nonmalformed neonates. For grouped ICD 10 malformations categories, the RR for severe small for gestational age was 2.88 (95% CI 2.51, 3.30) and 2.10 (95% CI 1.92, 2.30) for small for gestational age. For at-term and preterm malformed newborns, the RR for severe small for gestational age was 2.21 (95% CI 1.87, 2.61) and 3.21 (95% CI 2.52, 4.10), respectively; for small for gestational age, the RR was 2.31 (95% CI 2.11, 2.53) for at-term newborns and 2.58 (95% CI 2.16, 3.08) for preterm ones. CONCLUSIONS: Prevalence and relative risk of severe small and small for gestational age vary according to the group of malformations and gestational age; they increase in congenital malformations of the nervous, respiratory and digestive systems, and in chromosomal abnormalities and are lower for malformations of eye, ear, face and neck and cleft lip and palate. Foetal growth considered together with malformed newborns' gestational age would allow for inferring different risks of morbidity and mortality.

Preterm birth etiological pathways: a Bayesian networks and mediation analysis approach.

BACKGROUND: The aim of this study was to determine the mediating effect of spontaneous preterm birth (PTB) main predictors that would allow to suggest etiological pathways. METHODS: We carried out a case-control study, including sociodemographic characteristics, habits, health care, and obstetric data of multiparous women who gave birth at a maternity hospital from Tucumán, Argentina, between 2005 and 2010: 998 women without previous PTB who delivered at term and 562 who delivered preterm. We selected factors with the greatest predictive power using a penalized logistic regression model. A data-driven Bayesian network including the selected factors was created where we identified pathways and performed mediation analyses. RESULTS: We identified three PTB pathways whose natural indirect effect was greater than zero with a 95% confidence interval: maternal age less than 20 years mediated by few prenatal visits, vaginal bleeding in the first trimester mediated by vaginal bleeding in the second trimester, and urinary tract infection mediated by vaginal bleeding in the second trimester. The effect mediated in these pathways showed greater sensitivity to confounders affecting the variables mediator-outcome and exposure-mediator in the same direction. CONCLUSION: The identified pathways suggest PTB etiological lines related to social disparities and exposure to genitourinary tract infections. IMPACT: Few prenatal visits (<5) and vaginal bleeding are two of the main predictors for spontaneous preterm birth in the studied population. Few prenatal visits mediates part of the risk associated with maternal age less than 20 years and vaginal bleeding in the second trimester mediates part of the risk associated with vaginal bleeding in the first trimester and with urinary tract infection. Social disparities and exposure to genitourinary tract infections would be etiological lines of spontaneous preterm birth.

Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) / Asociación entre cardiopatías congénitas y malformaciones congénitas urinarias: Un estudio de casos y controles de 52 años del Estudio Colaborativo Latino Americano de Malformaciones Congénit

Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies. Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p < 0.05 were considered statistically significant. Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p < 0.000). The OR was of 3.61 (range: 1.86­7.00) for cloacal exstrophy, of 4.01 (range: 3.14­5.12) for imperforate anus, of 5.52 (range: 3.92­7.78) for horseshoe kidney, and of 13.7 (range: 6.65­28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract. Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and ho

Introducción Las malformaciones congénitas urológicas están presentes en 4,3/10 mil, y su asociación con otros defectos puede aumentar la mortalidad global y la discapacidad. Este estudio analiza la presentación de las malformaciones congénitas urológicas asociadas a las cardiopatías congénitas. Métodos Este es un estudio retrospectivo de casos y controles que usa el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC). Se incluyeron todos los casos registrados de malformaciones congénitas urológicas de 1967 a 2019, y todos los casos con y sin defectos cardiacos. Se calculó la razón de disparidad (RD) usando un intervalo de confianza del 95% (IC 95%). Se probó la hipótesis con el Chi-cuadrado y análisis de la varianza (analysis of variance, ANOVA, en inglés). Se realizó el análisis estadístico por medio del programa Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, Estados Unidos), versión 27.0. Se consideró la significancia estadística con valores de p < 0,05. Resultados Se evaluaron 7.767.161 recién nacidos, y se identificaron 17.834 malformaciones genitales y del tracto urinario superior. De estas, 64,2% fueron genitales, y 35,8%, de vías urinarias superiores. El 3,5% de los casos tenían malformaciones genitourinarias y defectos cardiacos congénitos concomitantes (GU + C). Aquellos con GU + C tenían mayor número de malformaciones (4,59 ± 2,3) que los pacientes sin defectos cardiacos (1,53 ± 1,58) (p < 0,000). La RD fue de 3.61 (rango: 1,86­700) para la extrofia cloacal, de 4,01 (3,14­5,12) para el ano imperforado, de 5,52 (3,92­7,78) para el riñón en herradura, y de 13,7 (6,65­28,22) para la trisomía 21 (síndrome de Down) con malformaciones del tracto urinario superior. Conclusión La asociación entre defectos cardiacos congénitos y anomalías urológicas es significativa en malformaciones congénitas complejas como el ano imperforado, la extrofia cloacal, y el riñón en herradura. Los pacientes con síndrome de Down y malformaciones urológicas tienen la mayor probabilidad.

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.

BACKGROUND: 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 with EA are locally or regionally based. We aimed to describe survival across multiple world regions. METHODS: We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. We calculated survival as the proportion of liveborn infants alive at 1 month, 1- and 5-years, among all infants with EA, those with isolated EA, those with EA and additional anomalies or EA and a chromosomal anomaly or genetic syndrome. We also investigated trends in survival over the decades, 1980s-2010s. RESULTS: We included 6,466 liveborn infants with EA. Survival was 89.4% (95% CI 88.1-90.5) at 1-month, 84.5% (95% CI 83.0-85.9) at 1-year and 82.7% (95% CI 81.2-84.2) at 5-years. One-month survival for infants with isolated EA (97.1%) was higher than for infants with additional anomalies (89.7%) or infants with chromosomal or genetic syndrome diagnoses (57.3%) with little change at 1- and 5-years. Survival at 1 month improved from the 1980s to the 2010s, by 6.5% for infants with isolated EA and by 21.5% for infants with EA and additional anomalies. CONCLUSIONS: Almost all infants with isolated EA survived to 5 years. Mortality was higher for infants with EA and an additional anomaly, including chromosomal or genetic syndromes. Survival improved from the 1980s, particularly for those with additional anomalies.

Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study.

PURPOSE: This study determined the prevalence, mortality, and time trends of children with congenital diaphragmatic hernia (CDH). METHODS: Twenty-five hospital- and population-based surveillance programs in 19 International Clearinghouse for Birth Defects Surveillance and Research member countries provided birth defects mortality data between 1974 and 2015. CDH cases included live births, stillbirths, or elective termination of pregnancy for fetal anomalies. Prevalence, cumulative mortality rates, and 95% confidence intervals (CIs) were calculated using Poisson regression and a Kaplan-Meier product-limit method. Joinpoint regression analyses were conducted to assess time trends. RESULTS: The prevalence of CDH was 2.6 per 10,000 total births (95% CI: 2.5-2.7), slightly increasing between 2001 and 2012 (average annual percent change = 0.5%; 95% CI:-0.6 to 1.6). The total percent mortality of CDH was 37.7%, with hospital-based registries having more deaths among live births than population-based registries (45.1% vs. 33.8%). Mortality rates decreased over time (average annual percent change = -2.4%; 95% CI: -3.8 to 1.1). Most deaths due to CDH occurred among 2- to 6-day-old infants for both registry types (36.3%, hospital-based; 12.1%, population-based). CONCLUSIONS: The mortality of CDH has decreased over time. Mortality remains high during the first week and varied by registry type.

The Latin American network for congenital malformation surveillance: ReLAMC.

The early detection of congenital anomaly epidemics occurs when comparing current with previous frequencies in the same population. The success of epidemiologic surveillance depends on numerous factors, including the accuracy of the rates available in the base period, wide population coverage, and short periodicity of analysis. This study aims to describe the Latin American network of congenital malformation surveillance: ReLAMC, created to increase epidemiologic surveillance in Latin America. We describe the main steps, tasks, strategies used, and preliminary results. From 2017 to 2019, five national registries (Argentina [RENAC], Brazil [SINASC/SIM-BRS], Chile [RENACH], Costa Rica [CREC], Paraguay [RENADECOPY-PNPDC]), six regional registries (Bogotá [PVSDC-Bogota], Cali [PVSDC-Cali], Maule [RRMC SSM], Nicaragua [SVDC], Nuevo-León [ReDeCon HU], São Paulo [SINASC/SIM-MSP]) and the ECLAMC hospital network sent data to ReLAMC on a total population of 9,152,674 births, with a total of 101,749 malformed newborns (1.1%; 95% CI 1.10-1.12). Of the 9,000,651 births in countries covering both live and stillbirths, 88,881 were stillborn (0.99%; 95% CI 0.98-0.99), and among stillborns, 6,755 were malformed (7.61%; 95% CI 7.44-7.79). The microcephaly rate was 2.45 per 10,000 births (95% CI 2.35-2.55), hydrocephaly 3.03 (2.92-3.14), spina bifida 2.89 (2.78-3.00), congenital heart defects 15.53 (15.27-15.79), cleft lip 2.02 (1.93-2.11), cleft palate and lip 2.77 (2.66-2.88), talipes 2.56 (2.46-2.67), conjoined twins 0.16 (0.14-0.19), and Down syndrome 5.33 (5.18-5.48). Each congenital anomaly showed heterogeneity in prevalence rates among registries. The harmonization of data in relation to operational differences between registries is the next step in developing the common ReLAMC database.

Colangiografía intraoperatoria: curva de aprendizaje en una Residencia de Cirugía General / Intraoperative cholangiography: Learning curve in a General Surgery residency

RESUMEN Antecedentes: el uso de la colangiografía intraoperatoria dinámica (CIOd) durante la colecistectomía laparoscópica (Colelap) sigue siendo un tema en discusión. Objetivos: Este trabajo tiene como objetivo describir y evaluar la curva de aprendizaje y los hallazgos en la CIOd durante las colecistectomías laparoscópicas realizadas por residentes de Cirugía General, incluyéndola como herramienta para una colecistectomía segura, así como entrenamiento para el de sarrollo de habilidades y destrezas. Material y métodos: se incluyeron pacientes con indicación de colecistectomía laparoscópica pro gramada o de urgencia. En las cirugías se realizó tracción según Hunter, visión crítica de seguridad y CIOd sistemática, por un residente mayor y la CIOd por un residente inferior, tutorizado por cirujano de planta. Se evaluaron curva de aprendizaje, tiempos operatorios, relación del tiempo de CIOd con el tiempo de duración de la Colelap (CIO/CX), redisección del cístico y litiasis cística y coledociana. Resultados: se operaron 456 pacientes durante un año (2017-2018). Se observó que, independiente mente de quien realice la CIOd, los residentes pudieron mejorar su curva de aprendizaje, objetiván dose tiempos más cortos para la Colelap, CIOd y la relación CIO/CX. Los coeficientes de aprendizaje fueron mejores en cirugías más complejas en relación con el semestre. El 5,26% presentó litiasis cole dociana (n = 24); de estas, 66,7% tenían litiasis cística (n = 16) y 25% colecistitis (n = 6) asociadas. Todas se resolvieron por vía transcística. No hubo conversiones y se realizó CIOd en el 100%. Conclusión: la CIOd es un procedimiento ideal para ser practicado de manera sistemática durante la Residencia, porque da el entrenamiento necesario para el manejo de la vía transcística, permite evitar una lesión quirúrgica de vía biliar mayor y el diagnóstico de coledocolitiasis.

ABSTRACT Background: The use of dynamic intra-operative cholangiography (dIOC) during laparoscopic cholecystectomy (Lap Chole) remains a topic under discussion. Objectives: This study aims to describe and evaluate the learning curve and findings in the dIOC during laparoscopic cholecystectomies performed by Residents of General Surgery, including it as a tool for a safe cholecystectomy, as well as training for the development of skills and abilities. Material and methods: Patients with indication of scheduled or emergency laparoscopic cholecystectomy were included. In the surgeries, traction was performed according to Hunter, critical safety vision and systematic dIOC, by a senior Resident and the dIOC by a less trained resident, tutored by a staff surgeon. Learning curve, operative times, dIOC time relationship with Lap Chole duration time (IOC/LC), repeated cystic dissection, cystic lithiasis and choledocholithiasis were evaluated. Results: 456 patients were operated for one year (2017-2018). It was observed that regardless of who performs the dIOC, they were able to improve their learning curve, objectifying shorter times for Lap Chole, dIOC and the IOC/LC relationship. The learning coefficients were better in complex surgeries in relation to the semester. 5.26 % had choledocholithiasis (n = 24), of these, 66.7% had cystic lithiasis (n = 16) and 25% associated cholecystitis (n = 6). All were resolved trancystically. There were no conversions and dIOC was performed in 100% of cases. Conclusion: The dIOC is an ideal procedure to be practiced systematically during residency. Because it gives the necessary training for the management of the transcystic pathway, allows avoiding an upper bile duct injury and the diagnosis of choledocholithiasis.

A multi-country study of prevalence and early childhood mortality among children with omphalocele.

BACKGROUND: Omphalocele is the second most common abdominal birth defect and often occurs with other structural and genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, and mortality during early childhood, by geographical region, and the presence of associated anomalies. METHODS: We conducted a retrospective study with 23 birth defect surveillance systems in 18 countries who are members of the International Clearinghouse for Birth Defects Surveillance and Research that submitted data on cases ascertained from 2000 through 2012, approximately 16 million pregnancies were surveyed that resulted in live births, stillbirths, or elective terminations of pregnancy for fetal anomalies (ETOPFA) and cases with omphalocele were included. Overall prevalence and mortality rates for specific ages were calculated (day of birth, neonatal, infant, and early childhood). We used Kaplan-Meier estimates with 95% confidence intervals (CI) to calculate cumulative mortality and joinpoint regression for time trend analyses. RESULTS: The prevalence of omphalocele was 2.6 per 10,000 births (95% CI: 2.5, 2.7) and showed no temporal change from 2000-2012 (average annual percent change = -0.19%, p = .52). The overall mortality rate was 32.1% (95% CI: 30.2, 34.0). Most deaths occurred during the neonatal period and among children with multiple anomalies or syndromic omphalocele. Prevalence and mortality varied by registry type (e.g., hospital- vs. population-based) and inclusion or exclusion of ETOPFA. CONCLUSIONS: The prevalence of omphalocele showed no temporal change from 2000-2012. Approximately one-third of children with omphalocele did not survive early childhood with most deaths occurring in the neonatal period.

A graph theory approach to analyze birth defect associations.

Birth defects are prenatal morphological or functional anomalies. Associations among them are studied to identify their etiopathogenesis. The graph theory methods allow analyzing relationships among a complete set of anomalies. A graph consists of nodes which represent the entities (birth defects in the present work), and edges that join nodes indicating the relationships among them. The aim of the present study was to validate the graph theory methods to study birth defect associations. All birth defects monitoring records from the Estudio Colaborativo Latino Americano de Malformaciones Congénitas gathered between 1967 and 2017 were used. From around 5 million live and stillborn infants, 170,430 had one or more birth defects. Volume-adjusted Chi-Square was used to determine the association strength between two birth defects and to weight the graph edges. The complete birth defect graph showed a Log-Normal degree distribution and its characteristics differed from random, scale-free and small-world graphs. The graph comprised 118 nodes and 550 edges. Birth defects with the highest centrality values were nonspecific codes such as Other upper limb anomalies. After partition, the graph yielded 12 groups; most of them were recognizable and included conditions such as VATER and OEIS associations, and Patau syndrome. Our findings validate the graph theory methods to study birth defect associations. This method may contribute to identify underlying etiopathogeneses as well as to improve coding systems.

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012.

BACKGROUND: Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal and postnatal mortality for individuals with spina bifida remains. OBJECTIVES: To examine stillbirth and infant and child mortality among those affected by spina bifida using data from multiple countries. METHODS: We conducted an observational study, using data from 24 population- and hospital-based surveillance registries in 18 countries contributing as members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal anomaly (ETOPFA) were included. Among liveborn spina bifida cases, we calculated mortality at different ages as number of deaths among liveborn cases divided by total number of liveborn cases with spina bifida. As a secondary outcome measure, we estimated the prevalence of spina bifida per 10 000 total births. The 95% confidence interval for the prevalence estimate was estimated using the Poisson approximation of binomial distribution. RESULTS: Between years 2001 and 2012, the overall first-week mortality proportion was 6.9% (95% CI 6.3, 7.7) and was lower in programmes operating in countries with policies that allowed ETOPFA compared with their counterparts (5.9% vs. 8.4%). The majority of first-week mortality occurred on the first day of life. In programmes where information on long-term mortality was available through linkage to administrative databases, survival at 5 years of age was 90%-96% in Europe, and 86%-96% in North America. CONCLUSIONS: Our multi-country study showed a high proportion of stillbirth and infant and child deaths among those with spina bifida. Effective folic acid interventions could prevent many cases of spina bifida, thereby preventing associated childhood morbidity and mortality.

A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean.

Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la organización March of Dimes instituyó una serie de asambleas bienales denominadas Conferencia internacional sobre defectos congénitos y discapacidades en el mundo en desarrollo (ICBD). La más re-ciente, en el 2017, se llevó a cabo en Bogotá (Colombia) y contó con la presencia de más de 300 profesionales, responsables de las políticas y donantes. Los asistentes a la conferencia, en su mayoría de América Latina y el Caribe, apoyaron un llamamiento a la acción en forma de una declaración de consenso. Dicha declaración enumera las acciones clave para potenciar al máximo la vigilancia, la prevención y la atención de los defectos congénitos en América Latina y el Caribe, a saber: 1) mejorar la vigilancia; 2) reducir los factores de riesgo asociados a defectos congénitos; 3) fortificar los alimentos de primera necesidad; 4) prevenir y tratar las infecciones asociadas con los defectos congénitos; 5) instituir programas de tamizaje a los recién nacidos; 6) prestar atención y servicios a las personas con defectos congénitos y discapacidades; 7) hacer participar a los gobiernos, la sociedad civil y los organismos internacionales; y 8) promover la investigación sobre los defectos congénitos. Se respaldaron la ejecución y la ampliación a mayor escala de las intervenciones basadas en evidencia, con enfoques colaborativos multisectoriales y multidisciplinarios. Los países de América Latina y el Caribe pueden aprovechar la tecnología y las redes sociales para impulsar y promover las estrategias mencionadas en la declaración de consenso. Por su parte, tanto los gobiernos como los organismos no gubernamentales pueden usar la declaración de consenso como una guía para adoptar medidas inmediatas para mejorar la calidad de vida de las personas con defectos congénitos y las discapacidades asociadas, en los países de América Latina y el Caribe.

As malformações congênitas constituem 21% das causas de morte em crianças menores de 5 anos na América Latina e no Caribe (ALC) e este ônus tem sido agravado pela epidemia do vírus zika. Em 2001, a March of Dimes lançou uma série de encontros bienais denominada International Conference on Birth Defects and Disabilities in the Developing World (conferência internacional sobre malformações congênitas e deficiências no mundo em desenvolvimento, ICBD). A última ICBD foi realizada em Bogotá, na Colômbia, em 2017 e contou com a participação de mais de 300 profissionais, formuladores de políticas e doadores. Os participantes da conferência, na sua maioria da ALC, demonstraram apoio a um chamado à ação na forma de uma declaração de consenso. Nela, enumeram-se as principais ações para aumentar ao máximo a vigilância, prevenção e atenção às malformações congênitas na ALC: 1) melhorar a vigilância; 2) reduzir os riscos de malformações congênitas; 3) fortificar os gêneros alimentícios de primeira necessidade; 4) prevenir e tratar as infecções associadas às malformações congênitas; 5) implementar testes de detecção em recém-nascidos; 6) prestar atendimento e serviços aos portadores de malformações congênitas e deficiências; 7) atrair a participação de governos, sociedade civil e organismos internacionais e 8) incentivar o progresso da pesquisa na área de malformações congênitas. Foram endossadas a implementação e a expansão das intervenções com fundamentação científica usando enfoques colaborativos multissetoriais e multidisciplinares. Os países da ALC devem se valer de tecnologia e das mídias sociais para promover e defender os enfoques identificados na declaração de consenso. A declaração pode servir como guia aos governos e organismos não governamentais ao tomarem medidas imediatas para melhorar a qualidade de vida de quem vive com malformações congênitas e deficiências associadas nos países da ALC.

A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean

[ABSTRACT]. Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

[RESUMEN]. Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la organización March of Dimes instituyó una serie de asambleas bienales denominadas Conferencia internacional sobre defectos congénitos y discapacidades en el mundo en desarrollo (ICBD). La más reciente, en el 2017, se llevó a cabo en Bogotá (Colombia) y contó con la presencia de más de 300 profesionales, responsables de las políticas y donantes. Los asistentes a la conferencia, en su mayoría de América Latina y el Caribe, apoyaron un llamamiento a la acción en forma de una declaración de consenso. Dicha declaración enumera las acciones clave para potenciar al máximo la vigilancia, la prevención y la atención de los defectos congénitos en América Latina y el Caribe, a saber: 1) mejorar la vigilancia; 2) reducir los factores de riesgo asociados a defectos congénitos; 3) fortificar los alimentos de primera necesidad; 4) prevenir y tratar las infecciones asociadas con los defectos congénitos; 5) instituir programas de tamizaje a los recién nacidos; 6) prestar atención y servicios a las personas con defectos congénitos y discapacidades; 7) hacer participar a los gobiernos, la sociedad civil y los organismos internacionales; y 8) promover la investigación sobre los defectos congénitos. Se respaldaron la ejecución y la ampliación a mayor escala de las intervenciones basadas en evidencia, con enfoques colaborativos multisectoriales y multidisciplinarios. Los países de América Latina y el Caribe pueden aprovechar la tecnología y las redes sociales para impulsar y promover las estrategias mencionadas en la declaración de consenso. Por su parte, tanto los gobiernos como los organismos no gubernamentales pueden usar la declaración de consenso como una guía para adoptar medidas inmediatas para mejorar la calidad de vida de las personas con defectos congénitos y las discapacidades asociadas, en los países de América Latina y el Caribe.

[RESUMO]. As malformações congênitas constituem 21% das causas de morte em crianças menores de 5 anos na América Latina e no Caribe (ALC) e este ônus tem sido agravado pela epidemia do vírus zika. Em 2001, a March of Dimes lançou uma série de encontros bienais denominada International Conference on Birth Defects and Disabilities in the Developing World (conferência internacional sobre malformações congênitas e deficiências no mundo em desenvolvimento, ICBD). A última ICBD foi realizada em Bogotá, na Colômbia, em 2017 e contou com a participação de mais de 300 profissionais, formuladores de políticas e doadores. Os participantes da conferência, na sua maioria da ALC, demonstraram apoio a um chamado à ação na forma de uma declaração de consenso. Nela, enumeram-se as principais ações para aumentar ao máximo a vigilância, prevenção e atenção às malformações congênitas na ALC: 1) melhorar a vigilância; 2) reduzir os riscos de malformações congênitas; 3) fortificar os gêneros alimentícios de primeira necessidade; 4) prevenir e tratar as infecções associadas às malformações congênitas; 5) implementar testes de detecção em recém-nascidos; 6) prestar atendimento e serviços aos portadores de malformações congênitas e deficiências; 7) atrair a participação de governos, sociedade civil e organismos internacionais e 8) incentivar o progresso da pesquisa na área de malformações congênitas. Foram endossadas a implementação e a expansão das intervenções com fundamentação científica usando enfoques colaborativos multissetoriais e multidisciplinares. Os países da ALC devem se valer de tecnologia e das mídias sociais para promover e defender os enfoques identificados na declaração de consenso. A declaração pode servir como guia aos governos e organismos não governamentais ao tomarem medidas imediatas para melhorar a qualidade de vida de quem vive com malformações congênitas e deficiências associadas nos países da ALC.

Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods.

BACKGROUND: Despite the numerous reports on the limb body wall complex (LBWC), this association has never been adequately defined. Amniotic bands (AB) are frequently present but their role remains unclear. Since most reports were based on clinical and often subjective diagnoses, the aim of this work was to define LBWC and the role of AB, minimizing subjectivity. METHODS: Data were obtained from the ECLAMC maternity hospitals network database. A total of 450 live and stillborn infants, born during 1967-2013, with AB or the LBWC were selected. A hierarchical cluster analysis was used to classify cases into homogeneous groups (sharing similar associated defects); robustness of the classification was confirmed with a discriminant analysis. The frequency of associated defects was compared among groups; those whose frequency differed significantly were included in a logistic regression to establish their association within each group. RESULTS: The cluster analysis identified two groups: a body wall defect (BWD) predominating in one, AB in the other. These groups were further divided into: BWD (cases with only BWD), AB (with only AB), BWD + AB, and NONE (with neither). Association with caudal defects and lower limb amelia was observed for BWD, with cephalic defects and upper limb amputations for BWD + AB. CONCLUSIONS: The results, obtained with the least possible subjectivity, indicated that BWD and BWD + AB are different conditions. Since BWD specifically associates with amelia, we propose that this defect and not any limb deficiency should be considered as inclusion criterium and that it should be included in the BWD acronym as LBWC.

Prevalencia del bajo peso al nacer en un escenario de depresión económica en Argentina / Prevalence of low birth weight in a scenario of economic depression in Argentina

Introducción. El bajo peso al nacer (BPN) es considerado un indicador general de salud por su relación con complicaciones en la vida del recién nacido y por ser una de las primeras causas de mortalidad infantil. Es multifactorial y, entre sus determinantes, se incluyen los socioeconómicos. Objetivo. Evaluar el impacto de la desigualdad económica sobre la prevalencia del BPN, cuantificando el efecto diferencial según edad y educación materna y nivel de atención. Población y métodos. Estudio epidemiológico de diseño transversal, en el cual se analizaron los nacimientos ocurridos en Argentina desde 2001 a 2013 con datos obtenidos del Registro Nacional de los nacimientos, perteneciente a la Dirección de Estadísticas e Información en Salud (DEIS). Se estudió la variación temporal de la prevalencia de recién nacidos con BPN (< 2500 gramos) y su relación con indicadores demográficos y socioeconómicos. Se evaluó su asociación a través de modelos de regresión logística. Resultados. Se incluyeron 9 001 960 nacimientos. Se observó un incremento en la prevalencia de recién nacidos con BPN durante la crisis económica de 2001 -de un 6% en 2002 y un 7% en 2003-. Fue heterogéneo y tuvo mayor impacto en hospitales públicos (razón de prevalencia -RP-= 1,03) y madres adolescentes (RP= 1,07) y ningún impacto sobre la educación materna baja (RP= 0,99). Conclusiones. El impacto de la desigualdad socioeconómica sobre la prevalencia de bajo peso fue significativo y heterogéneo, más importante en hospitales públicos y madres en edades extremas.

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.