Publications by authors named "Carmen M Burgos"

Article Synopsis
  • The study investigates the genetic factors, prevalence, and outcomes of patients with congenital diaphragmatic hernia (CDH) combined with cleft lip and/or palate (CL/P).
  • Findings reveal that CDH patients have a low prevalence of CL/P (0.7%) and those with both conditions experience worse health outcomes, including higher mortality rates and longer hospital stays.
  • Genetic abnormalities linked to CDH+CL/P include trisomy 13 and deletions in specific chromosomal regions, highlighting the complex interplay between these congenital defects.
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Background: Infants born with congenital diaphragmatic hernia (CDH) are at high risk of respiratory insufficiency and pulmonary hypertension. Routine practice includes immediate clamping of the umbilical cord and endotracheal intubation. Experimental animal studies suggest that clamping the umbilical cord guided by physiological changes and after the lungs have been aerated, named physiological-based cord clamping (PBCC), could enhance the fetal-to-neonatal transition in CDH.

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Background: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care.

Method: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology.

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Background: Recurrent tracheoesophageal fistula (rTEF) is a well-known complication after surgery of EA, occurring in roughly 3-10% of the patients. Recent studies have highlighted safety and efficacy of endoscopic management of recurrent TEF. The aim of this study was to evaluate the efficacy of chemocauterization with trichloroacetic acid (TCA) in rTEF and congenital tracheoesophageal fistula (cTEF).

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Background: Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for these patients. The aim of this international study was to assess the current status of TOC and adult care (AC) programs for patients with ARM and HD.

Methods: A survey was developed by members of EUPSA, ERN eUROGEN, and ERNICA, including patient representatives (ePAGs), comprising of four domains: general information, general questions about transition to adulthood, and disease-specific questions regarding TOC and AC programs.

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Background: The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH.

Methods: Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.

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Extracorporeal membrane oxygenation (ECMO) is a universally accepted and life-saving therapy for neonates with respiratory or cardiac failure that is refractory to maximal medical management. Early studies found unacceptable risks of mortality and morbidities such as intracranial hemorrhage among premature and low birthweight neonates, leading to widely accepted ECMO inclusion criteria of gestational age ≥34 weeks and birthweight >2 kg. Although contemporary data is lacking, the most recent literature demonstrates increased survival and decreased rates of intracranial hemorrhage in premature neonates who are supported with ECMO.

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Introduction: Congenital diaphragmatic (CDH) hernia is a rare congenital malformation with considerable mortality and morbidity in the neonatal period. The majority of the children today survive but little is known about long term cardiovascular morbidity.

Material And Methods: This was a nationwide population-based prospective case-control study within a cohort of Swedish children with CDH, born 1982-2015.

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Background: The natural history of congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestrations (BPS) is not fully understood, and the management of the newborn with an asymptomatic lesion is a controversial issue. We aimed to study the natural history and outcome of CPAM/BPS at our institution with a policy of watchful waiting, and to investigate if any prognostic factors in the pre- and/or postnatal- period may predict the need for surgery.

Material And Methods: A retrospective review study was conducted of children prenatally diagnosed with CPAM and/or BPS during the 18-year period, from 2002 to 2020.

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Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci.

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Early preterm birth < 34 gestational weeks (GA) and birth weight (BW) <2 kg are relative contraindications for extracorporeal membrane oxygenation (ECMO). However, with improved technology, ECMO is presently managed more safely and with decreasing complications. Thus, these relative contraindications may no longer apply.

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Objective: To determine the optimal timing of congenital diaphragmatic hernia (CDH) repair after extracorporeal membrane oxygenation (ECMO) cannulation.

Summary Background Data: The timing of CDH repair after ECMO cannulation remains a controversial topic due to studies with low power or strong selection bias.

Methods: This is a 2-aim retrospective cohort study based on the CDH Study Group registry for the period of 2007-2017.

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Background: Support on Extracorporeal oxygenation membrane (ECMO) represents the last therapeutic option in the management of respiratory failure and pulmonary hypertension refractory to treatment in patients with congenital diaphragmatic hernia (CDH).

Aim: The objective of this work was to present our experience of all the cases of CDH that we have transported on ECMO.

Material And Methods: Medical records of patients, national and international, with CDH transported by our service on ECMO from 1997 to 2018 were reviewed.

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Background: VACTERL is a complicated syndrome with an unknown etiology where many studies have failed to identify the cause. In esophageal atresia (EA) roughly 10%-23% also have concurrent anomalies that align with VACTERL disorder. The aim of this study is to investigate if there is a difference regarding localization of the tracheoesophageal fistula between patients with VACTERL and non-VACTERL patients.

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Aim: To compare outcomes between prenatally and postnatally diagnosed CDH in a large multicenter database of prospectively collected data and evaluate factors associated with poorer outcome for prenatally diagnosed CDH.

Material And Methods: We used information from the multicenter, multinational CDH Study Group database on patients born between 2007 and 2015. We compared differences between prenatally and postnatally diagnosed CDH with respect to survival, side, size, ECMO needs, associated major cardiac malformations and liver position.

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Background: Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented.

Aim: To investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution.

Materials And Methods: Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016.

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Purpose: The aim was to investigate social competence and behavioral and emotional problems in children and adolescents born with CDH.

Methods: All children born with CDH, treated in Stockholm 1990-2009, were invited to participate. After written consent, the Child Behavior Checklist or Adult Self-Report questionnaires were sent to participants.

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Purpose: The aim of this study was to examine health-related quality of life (HRQoL) in children born with congenital diaphragmatic hernia (CDH).

Methods: Between 1993 and 2003, a total of 102 children born with CDH were treated at Astrid Lindgren Children's hospital in Stockholm. In 2012, long-term survivors (n = 77) were asked to participate in the present study, which resulted in a 46% (n = 35) response rate.

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Background: Lung and pulmonary vascular maldevelopment in congenital diaphragmatic hernia (CDH) results in significant morbidity and mortality. Retinoic acid (RA) and imatinib have been shown to improve pulmonary morphology following prenatal administration in the rat nitrofen-induced CDH model. It remains unclear if these changes translate into improved function.

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Background: Lymphatic malformations (LMs) in the mediastinum are uncommon. However, cervical LMs may expand into the mediastinum. The aim of this study was to review our experience with the management of patients with LMs involving the mediastinum and to propose a treatment algorithm to guide the management of these rare malformations.

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Background: Right-sided congenital diaphragmatic hernias (CDH) and bigger defect sizes have been associated with poorer outcomes.

Aim: The aim of this study was to evaluate right- and left-sided CDH in terms of size, survival, associated anomalies, and morbidity.

Material And Methods: We used information from a multicenter, multinational database including patients with CDH born between 2007 and 2015.

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Background: In low- and middle-income countries, there is a gap between the need for surgery and its equitable provision, and a lack of proxy indicators to estimate this gap. Sierra Leone is a West African country with close to three million children. It is unknown to what extent the surgical needs of these children are met.

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