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1.
Isr Med Assoc J ; 22(1): 27-31, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31927802

RESUMO

BACKGROUND: Congenital heart defects (CHD) may be associated with neurodevelopmental abnormalities mainly due to brain hypoperfusion. This defect is attributed to the major cardiac operations these children underwent, but also to hemodynamic instability during fetal life. Advances in imaging techniques have identified changes in brain magnetic resonance imaging (MRI)in children with CHD. OBJECTIVES: To examine the correlation between CHD and brain injury using fetal brain MRI. METHODS: We evaluated 46 fetuses diagnosed with CHD who underwent brain MRI. CHD was classified according to in situs anomalies, 4 chamber view (4CV), outflow tracts, arches, and veins as well as cyanotic or complex CHD. We compared MRI results of different classes of CHD and CHD fetuses to a control group of 113 healthy brain MRI examinations. RESULTS: No significant differences were found in brain pathologies among different classifications of CHD. The anteroposterior percentile of the vermis was significantly smaller in fetuses with abnormal 4CV. A significantly higher biparietal diameter was found in fetuses with abnormal arches. A significantly smaller transcerebellar diameter was found in fetuses with abnormal veins. Compared to the control group, significant differences were found in overall brain pathology in cortex abnormalities and in extra axial findings in the study group. Significantly higher rates of overall brain pathologies, ventricle pathologies, cortex pathologies, and biometrical parameters were found in the cyanotic group compared to the complex group and to the control group. CONCLUSIONS: Fetuses with CHD demonstrate findings in brain MRI that suggest an in utero pathogenesis of the neurological and cognitive anomalies found during child development.


Assuntos
Lesões Encefálicas/embriologia , Feto/diagnóstico por imagem , Cardiopatias Congênitas/etiologia , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/embriologia , Encéfalo/patologia , Lesões Encefálicas/complicações , Lesões Encefálicas/diagnóstico por imagem , Lesões Encefálicas/patologia , Estudos de Casos e Controles , Ecocardiografia , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Neuroimagem , Gravidez , Diagnóstico Pré-Natal/métodos
2.
J Pediatr Endocrinol Metab ; 32(8): 797-802, 2019 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-31323007

RESUMO

PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.


Assuntos
Anormalidades Múltiplas/etiologia , Coartação Aórtica/etiologia , Doenças do Sistema Endócrino/complicações , Anormalidades do Olho/etiologia , Síndromes Neurocutâneas/etiologia , Anormalidades Múltiplas/patologia , Coartação Aórtica/patologia , Fossa Craniana Posterior/patologia , Anormalidades do Olho/patologia , Neoplasias Faciais/etiologia , Neoplasias Faciais/patologia , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/patologia , Hemangioma/etiologia , Hemangioma/patologia , Humanos , Síndromes Neurocutâneas/patologia , Síndrome
3.
Biomed Res Int ; 2019: 1315796, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31360700

RESUMO

Objective: The exact shape of the dose-response relationship between maternal body mass index (BMI) and the risk of congenital heart defects (CHDs) in infants has not been clearly defined yet. This study aims to further clarify the relationship between maternal obesity and the risk of CHDs in infants by an overall and dose-response meta-analysis. Methods: PubMed, Embase, and Web of Science databases were searched to identify all related studies. The studies were limited to human cohort or case-control studies in English language. Random-effect models and dose-response meta-analysis were used to synthesize the results. Heterogeneity, subgroup analysis, sensitivity analysis, and publication bias were also assessed. Results: Nineteen studies with 2,416,546 participants were included in our meta-analysis. Compared with the mothers with normal weight, the pooled relative risks (RRs) of infants with CHDs were 1.08 (95% CI=1.03-1.13) in overweight and 1.23 (95% CI=1.17-1.29) in obese mothers. According to the findings from the linear meta-analysis, we observed an increased risk of infants with CHDs (RR=1.07, 95% CI=1.06-1.08) for each 5 kg/m2 increase in maternal BMI. A nonlinear relationship between maternal BMI and risk of infants with CHDs was also found (p=0.012). Conclusion: The results from our meta-analysis indicate that increased maternal BMI is related to increased risk of CHDs in infants.


Assuntos
Índice de Massa Corporal , Cardiopatias Congênitas , Obesidade , Complicações na Gravidez , Feminino , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/fisiopatologia , Humanos , Lactente , Recém-Nascido , Obesidade/complicações , Obesidade/epidemiologia , Obesidade/fisiopatologia , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/fisiopatologia , Fatores de Risco
4.
Artigo em Inglês | MEDLINE | ID: mdl-31212780

RESUMO

Caring for children and mothers suffering from cardiac disease is highly challenging, with issues including late diagnosis as well as inadequate infrastructure and supply of drugs. We aimed to evaluate maternal outcomes among pregnant women suffering from heart disease with a live birth, and explored the risk factors for fetal growth restriction among these patients. A retrospective study was performed at the National Hospital of Obstetrics and Gynecology (Hanoi, Vietnam) over a 3-year period from 2014 to 2016. A total of 284 patients were enrolled in the study. Overall, most women were aged below 35 years and were diagnosed with heart disease before pregnancy. Of the women experiencing rheumatic heart disease, the prevalence of mitral valve regurgitation was the highest (40.14%), while the figure for aortic valve regurgitation was the lowest (4.23%). Of women with congenital heart defects, the most common defects were ventricular septal defect (VSD) and atrial septal defect (ASD) (19.37% and 16.55%, respectively), while 5.28% of mothers were diagnosed with tetralogy of Fallot and 1.76% with patent ductus arteriosus. Noted clinical presentations of the patients included palpitation (63.38%), breathlessness (23.59%), leg edema (8.45%), and chest pain (8.1%). The common complications in the study population included 16.90% of women having heart failure and 19.37% having arrhythmias. The incidence of fetal growth restriction was 9.15%. Hypertension (odds ratio (OR): 59.75, 95% confidence interval (CI): 9.1-392.17), the heart disease types (ASD (OR: 4.27, 95% CI: 1.19-15.29) and tetralogy of Fallot (OR: 6.82, 95% CI: 1.21-38.55)), and the complications (heart failure (OR: 10.34, 95% CI: 2.75-38.87) and pulmonary edema (OR: 107.16, 95% CI: 4.96-2313.93)) were observed as risk factors for intrauterine growth restriction. This study provides a cornerstone to promote further studies and to motivate people to apply evidence-based medical care for mothers with diagnosed cardiac disease in the antenatal and postnatal periods.


Assuntos
Desenvolvimento Fetal/fisiologia , Retardo do Crescimento Fetal/etiologia , Cardiopatias Congênitas/etiologia , Mães/estatística & dados numéricos , Complicações Cardiovasculares na Gravidez , Adulto , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Razão de Chances , Gravidez , Prevalência , Estudos Retrospectivos , Fatores de Risco , Vietnã
5.
Clin Cardiol ; 42(7): 684-691, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31073996

RESUMO

BACKGROUND: Advances have been made in identifying genetic etiologies and maternal risk factors of congenital heart defects (CHDs), while few literatures are available regarding paternal risk factors for CHDs. Thus, we aim to conduct a meta-analysis and systematic review about the non-genetic paternal risk factors for CHDs. METHODS: We searched the PubMed, MEDLINE, and Cochrane Library online databases and identified 31 studies published between 1990 and 2018 according to the inclusion criteria. Paternal risk factors were divided into subgroups, and summarized odd ratios (OR) were calculated. RESULTS: Paternal age between 24 and 29 years decreased the risk of CHDs in the offspring (OR = 0.90 [0.82, 0.98]), while paternal age ≥ 35 years old increased the risk of CHDs (35-39 years old: OR = 1.14 [1.09, 1.19], and ≥ 40 years: OR = 1.27 [1.14, 1.42]). Paternal cigarette smoking increased the risk of CHDs in a dose-dependent way. Paternal wine drinking (OR = 1.47 [1.05, 2.07]) and exposure to chemical agents or drugs (OR = 2.15 [1.53, 3.02]) also increased the risk of CHDs. Some specific paternal occupations were also associated with increased risk for CHDs or CHD subtypes including factory workers, janitors, painters, and plywood mill workers. CONCLUSIONS: This meta-analysis and systematic review suggested that advanced paternal age, cigarette smoking, wine drinking, exposure to chemical agents or drugs and some specific occupations were associated with an increased risk of CHDs. More measures should be taken to reduce occupational and environment exposures. At the same time, fertility at certain age and establishment of healthy life habits are strongly recommended.


Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Cardiopatias Congênitas/etiologia , Exposição Ocupacional/efeitos adversos , Pais , Fumar/efeitos adversos , Saúde Global , Cardiopatias Congênitas/epidemiologia , Humanos , Incidência , Fatores de Risco
6.
Middle East Afr J Ophthalmol ; 26(1): 37-39, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31114123

RESUMO

Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD.


Assuntos
Blefaroptose/etiologia , Anormalidades do Olho/complicações , Cardiopatias Congênitas/etiologia , Anormalidades Maxilomandibulares/etiologia , Doenças do Sistema Nervoso/etiologia , Disco Óptico/anormalidades , Anisometropia/etiologia , Anisometropia/fisiopatologia , Blefaroptose/diagnóstico , Blefaroptose/fisiopatologia , Criança , Esotropia/etiologia , Esotropia/fisiopatologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/fisiopatologia , Humanos , Anormalidades Maxilomandibulares/diagnóstico , Anormalidades Maxilomandibulares/fisiopatologia , Masculino , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/fisiopatologia , Reflexo Anormal
7.
BJOG ; 126(7): e142-e151, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30916430

RESUMO

Heart problems are common in newborn babies, affecting approximately 5-10 in 1000 babies. Some are more serious than others, but most babies born with heart problems do not have other health issues. Of those babies who have a serious heart problem, almost 1 in 4 will have heart surgery in their first year. In the UK, pregnant women are offered a scan at around 20 weeks to try and spot any heart problems. In most cases there is not a clear reason for the problem, but sometimes other issues, such as genetic conditions, are discovered. In recent years the care given to these babies after they are born has improved their chances of surviving. However, it is recognised that babies born with heart problems have a risk of delays in their learning and development. This may be due to their medical condition, or as a result of surgery and complications after birth. In babies with heart problems, there is a need for more research on ultrasound and magnetic resonance imaging (MRI) to understand how the brain develops and why these babies are more likely to have delays in learning and development. This paper discusses the way ultrasound and MRI are used in assessing the baby's brain. Ultrasound is often used to spot any problems, looking at how the baby's brain develops in pregnancy. Advances in ultrasound technologies have made this easier. MRI is well-established and safe in pregnancy, and if problems in the brain have been seen on ultrasound, MRI may be used to look at these problems in more detail. While it is not always clear what unusual MRI findings can mean for the baby in the long term, increased understanding may mean parents can be given more information about possible outcomes for the baby and may help to improve the counselling they are offered before their baby's birth.


Assuntos
Doenças Fetais/diagnóstico , Cardiopatias Congênitas/diagnóstico , Encefalopatias/diagnóstico , Encefalopatias/embriologia , Feminino , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/etiologia , Humanos , Imagem por Ressonância Magnética/métodos , Transtornos do Neurodesenvolvimento/diagnóstico , Exame Neurológico/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Prognóstico , Ultrassonografia Pré-Natal/métodos
8.
Pediatr Cardiol ; 40(4): 865-870, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30830281

RESUMO

The frequency of newborns with congenital heart disease (CHD) is approximately 1% in the general population; however, the recurrence rate of CHD in mothers with CHD differs in ethnicity and reports. We therefore aimed to determine the prevalence of CHD among neonates born to mothers with CHD in our institute in Japan. We reviewed the medical charts of 803 neonates delivered by 529 women with CHD at the National Cerebral and Cardiovascular Center from 1982 to 2016. They included isolated ventricular septal defect (VSD,31.4%), isolated atrial septal defect (ASD, 23.3%), tetralogy of Fallot (TOF,10.6%). We defined CHD in neonates as being diagnosed within 1 month of birth. We estimated that the average rate of the CHD recurrence was 3.1%. The recurrence ratios in each maternal CHD were 8.6%, 7.1%, 6.2%, 4.8%, 3.6%, and 1.5% for PS, CoA, TOF, atrioventricular septal defect, VSD, and ASD, respectively. The rate of CHD in offsprings whose mothers have CHD was 3 times greater than that of mothers with healthy hearts. Almost half of neonates with CHD had the same phenotype as their mother in our series. Especially, PS and CoA were closely related to the type of maternal CHD.


Assuntos
Cardiopatias Congênitas/epidemiologia , Adolescente , Adulto , Criança , Feminino , Cardiopatias Congênitas/etiologia , Humanos , Recém-Nascido , Japão , Masculino , Pessoa de Meia-Idade , Mães/estatística & dados numéricos , Prevalência , Recidiva , Estudos Retrospectivos , Adulto Jovem
9.
Curr Opin Chem Biol ; 48: 150-157, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30711722

RESUMO

Congenital malformations, or structural birth defects, are now the leading cause of infant mortality in the United States and Europe (Dolk et al., 2010; Heron et al., 2009). Of the congenital malformations, congenital heart disease (CHD) is the most common (Dolk et al., 2010; Heron et al., 2009). Thus, a molecular understanding of heart development is an essential goal for improving clinical approaches to CHD. However, CHDs are commonly a result of genetic defects that manifest themselves in a spatial and temporal manner during the early stages of embryogenesis, leaving them mostly intractable to mass spectrometry-based analysis. Here, we describe the technologies and advancements in the field of mass spectrometry over the past few years that have begun to provide insights into the molecular and cellular basis of CHD and prospects for these types of approaches in the future.


Assuntos
Cardiopatias Congênitas/etiologia , Coração/embriologia , Espectrometria de Massas/métodos , Proteômica/métodos , Animais , Diferenciação Celular , Reprogramação Celular , Células-Tronco Embrionárias/citologia , Fibroblastos/citologia , Humanos , Células-Tronco Pluripotentes Induzidas/citologia , Miócitos Cardíacos/citologia , Proteoma/análise
11.
Arch Dis Child ; 104(1): 19-24, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29627765

RESUMO

OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little is known regarding the prevalence and characteristics of scoliosis in patients with 22q11.2DS. The objective of this study is to assess the prevalence of scoliosis, its characteristics and the association with CHD in patients with 22q11.2DS. DESIGN: This prevalence study is based on physical examination and questionnaires of the world's largest 22q11.2DS longitudinal collected database (n=1393, Children's Hospital of Philadelphia) and was augmented with the scoliosis prevalence based on radiography in a smaller cohort (cross-sectional, University Medical Center Utrecht). PATIENTS: Patients with a laboratory-confirmed 22q11.2 deletion who visited the specialised outpatient clinics were considered for inclusion. MAIN OUTCOME MEASURES: (1) The prevalence of scoliosis, (2) its association with CHD, and (3) the similarity between 22q11.2DS curve patterns and adolescent idiopathic scoliosis (AIS) curve patterns. RESULTS: Within the Philadelphia cohort, the prevalence of scoliosis in patients older than 16 years (n=317) was 48% (n=152). A similar prevalence (49%) was shown for the younger Utrecht cohort (n=97). The occurrence of scoliosis was not associated with the presence of CHD. Sixty-three per cent of patients with scoliosis had a scoliotic curve pattern that resembled AIS. CONCLUSIONS: Clinicians should be aware that scoliosis is highly prevalent (48%-49%) in association with 22q11.2DS, irrespective of other clinical features (eg, the presence of CHD). Furthermore, 22q11.2DS may provide insights into the causes of AIS.


Assuntos
Síndrome de DiGeorge , Radiografia , Escoliose , Coluna Vertebral/diagnóstico por imagem , Adolescente , Correlação de Dados , Estudos Transversais , Bases de Dados Factuais/estatística & dados numéricos , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/epidemiologia , Síndrome de DiGeorge/fisiopatologia , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia , Humanos , Masculino , Países Baixos/epidemiologia , Radiografia/métodos , Radiografia/estatística & dados numéricos , Escoliose/diagnóstico , Escoliose/epidemiologia , Escoliose/etiologia , Estados Unidos/epidemiologia
12.
Int J Mol Med ; 43(2): 980-992, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30535467

RESUMO

Our previous studies identified that the expression of microRNA­29c (miR­29c­3p) was significantly increased in the serum of pregnant women carrying fetuses with congenital heart disease (CHD) compared with in that of normal pregnant women. However, the mechanism by which miR­29c­3p affects development of the embryonic heart remained unclear. The aim of the present study was to investigate the effect and potential molecular mechanism of miR­29c­3p overexpression on P19 cell proliferation, apoptosis and differentiation. miR­29c­3p­overexpression and protein kinase Bγ (Akt3)­knockdown cell lines were constructed using transfection technology. The function of miR­29c­3p and Akt3 in cardiomyocyte development was investigated by determining the proliferation, apoptosis and differentiation of P19 cells, which can differentiate into cardiomyocytes induced by dimethylsulfoxide. Bioinformatic analysis and luciferase assays were performed to explore the association between Akt3 and miR­29c­3p. The results of the present study revealed that miR­29c­3p overexpression and Akt3 knockdown suppressed proliferation, and promoted apoptosis and differentiation in P19 cells. Akt3 was also demonstrated to be a target of miR­29c­3p. Therefore, overexpression of miR­29c­3p may inhibit proliferation, and promote apoptosis and differentiation in P19 cells by inhibiting the expression of Akt3. miR­29c­3p may be a potential therapeutic target for the treatment of CHD.


Assuntos
Regulação da Expressão Gênica , Cardiopatias Congênitas/etiologia , MicroRNAs/genética , Proteínas Proto-Oncogênicas c-akt/genética , Interferência de RNA , Animais , Biomarcadores , Pontos de Checagem do Ciclo Celular , Linhagem Celular Tumoral , Proliferação de Células , Cardiopatias Congênitas/metabolismo , Cardiopatias Congênitas/patologia , Camundongos , Miócitos Cardíacos/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Transfecção , Proteína X Associada a bcl-2/metabolismo
13.
Pediatr Cardiol ; 40(3): 595-601, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30556105

RESUMO

Congenital heart defects are common among patients with trisomy 13 and 18; surgical repair has been controversial and rarely studied. We aimed to assess the frequency of cardiac surgery among admissions with trisomy 13 and 18, and evaluate their associations with resource use, complications, and mortality compared to admissions without these diagnoses. We evaluated congenital heart surgery admissions of ages < 18 years in the 1997, 2000, 2003, 2006, and 2009 Kids' Inpatient Database. Bivariate and multivariate analyses examined the adjusted association of trisomy 13 and 18 on resource use, complications, and inpatient death following congenital heart surgery. Among the 73,107 congenital heart surgery admissions, trisomy 13 represented 0.03% (n = 22) and trisomy 18 represented 0.08% (n = 58). Trisomy 13 and 18 admissions were longer; trisomy 13: 27 days vs. 8 days, p = 0.003; trisomy 18: 16 days vs. 8 days, p = 0.001. Hospital charges were higher for trisomy 13 and 18 admissions; trisomy 13: $160,890 vs. $87,007, p = 0.010; trisomy 18: $160,616 vs. $86,999, p < 0.001. Trisomy 18 had a higher complication rate: 52% vs. 34%, p < 0.006. For all cardiac surgery admissions, mortality was 4.5%; trisomy 13: 14% and trisomy 18: 12%. In multivariate analysis, trisomy 18 was an independent predictor of death: OR 4.16, 95% CI 1.35-12.82, p = 0.013. Patients with trisomy 13 and 18 represent 0.11% of pediatric congenital heart surgery admissions. These patients have a 2- to 3.4-fold longer hospital stay and double hospital charges. Patients with trisomy 18 have more complications and four times greater adjusted odds for inpatient death.


Assuntos
Procedimentos Cirúrgicos Cardíacos/estatística & dados numéricos , Cardiopatias Congênitas/epidemiologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Síndrome da Trissomia do Cromossomo 13/complicações , Síndrome da Trissomía do Cromossomo 18/complicações , Adolescente , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/economia , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/cirurgia , Preços Hospitalares/estatística & dados numéricos , Mortalidade Hospitalar , Hospitalização/estatística & dados numéricos , Humanos , Tempo de Internação/economia , Tempo de Internação/estatística & dados numéricos , Masculino , Complicações Pós-Operatórias/epidemiologia , Fatores de Risco , Síndrome da Trissomia do Cromossomo 13/mortalidade , Síndrome da Trissomia do Cromossomo 13/cirurgia , Síndrome da Trissomía do Cromossomo 18/mortalidade , Síndrome da Trissomía do Cromossomo 18/cirurgia
14.
Pediatr Neonatol ; 60(3): 261-269, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30146459

RESUMO

BACKGROUND: Esophageal atresia is a major congenital foregut anomaly. Affected patients often suffer from respiratory and gastro-intestinal morbidity. The objective of this study is to identify possible neonatal predictive factors contributing to a long-term complicated clinical course in patients after repair of esophageal atresia. METHODS: A total of 93 patients born between 1993 and 2013, with esophageal atresia and surviving the neonatal period were included in this retrospective study. A complicated clinical course was defined as the occurrence of ≥1 of these complications: severe gastro-esophageal reflux, esophageal stricture requiring dilatations, need for tube feeding for >100 days, severe tracheomalacia, severe chronic respiratory disease and death. We used linear models with a binomial distribution to determine risk factors for gastro-intestinal or respiratory complicated evolution and a backward stepwise elimination procedure to reduce models until only significant variables remained in the model. Multinomial logistic regression was used to assess risk factors for different evolutions of complication. Model parameter estimates were used to calculate odds ratios for significant risk factors. RESULTS: Fifty-seven patients (61%) had a complicated clinical course in the first year of life and 47 (51%) had a complicated evolution during years 1-6. In the first year, prematurity was a significant factor for complicated gastro-intestinal (OR 2.84) and respiratory evolution (OR 2.93). After 1 year, gastro-intestinal morbidity in childhood was associated with VACTERL association (OR 12.2) and a complicated first year (OR 36.1). Respiratory morbidity was associated with congenital heart disease (OR 12.9) and a complicated first year (OR 86.9). Multinomial logistic regression showed that prematurity (p = 0.018) and VACTERL association (p = 0.003) were significant factors of complications. CONCLUSION: Prematurity is an important predictive factor for a complicated clinical course in early life. A complicated first year often predicts a complicated clinical course in childhood. These risk factors may be helpful in counseling of parents in the neonatal period.


Assuntos
Canal Anal/anormalidades , Atresia Esofágica/complicações , Estenose Esofágica/etiologia , Esôfago/anormalidades , Refluxo Gastroesofágico/etiologia , Cardiopatias Congênitas/etiologia , Rim/anormalidades , Deformidades Congênitas dos Membros/etiologia , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Atresia Esofágica/cirurgia , Humanos , Recém-Nascido , Modelos Logísticos , Morbidade , Estudos Retrospectivos , Fatores de Risco
15.
Am J Med Genet C Semin Med Genet ; 178(4): 440-446, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30580478

RESUMO

VACTERL association is a condition involving the presence of multiple congenital anomalies. The condition was first described more than four decades ago, and is not extremely rare. However, relatively little is understood about the causes and underlying biology of the condition as a whole. There are many reasons for this, but there is increasing recognition that VACTERL is extremely clinically as well as etiologically heterogeneous, and this heterogeneity--as well as other hypothesized factors--have caused challenges to identifying the causes for a substantial proportion of patients. Current knowledge about the causes of this condition (or group of conditions) are described, followed by a discussion of possibilities that may reveal more answers for patients as well as researchers and clinicians who work related to this disorder.


Assuntos
Anormalidades Múltiplas , Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/patologia , Rim/anormalidades , Deformidades Congênitas dos Membros/etiologia , Deformidades Congênitas dos Membros/patologia , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Canal Anal/patologia , Esôfago/patologia , Humanos , Rim/patologia , Coluna Vertebral/patologia , Traqueia/patologia
16.
Birth Defects Res ; 110(20): 1517-1530, 2018 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-30576091

RESUMO

Low oxygen concentration (hypoxia) is part of normal embryonic development, yet the situation is complex. Oxygen (O2 ) is a janus gas with low levels signaling through hypoxia-inducible transcription factor (HIF) that are required for development of fetal and placental vasculature and fetal red blood cells. This results in coupling of fetus and mother around midgestation as a functional feto-placental unit (FPU) for O2 transport, which is required for continued growth and development of the fetus. Defects in these processes may leave the developing fetus vulnerable to O2 deprivation or other stressors during this critical midgestational transition when common septal and conotruncal heart defects (CHDs) are likely to arise. Recent human epidemiological and case-control studies support an association between placental dysfunction, manifest as early onset pre-eclampsia (PE) and increased serum bio-markers, and CHD. Animal studies support this association, in particular those using gene inactivation in the mouse. Sophisticated methods for gene inactivation, cell fate mapping, and a quantitative bio-reporter of O2 concentration support the premise that hypoxic stress at critical stages of development leads to CHD. The secondary heart field contributing to the cardiac outlet is a key target, with activation of the un-folded protein response and abrogation of FGF signaling or precocious activation of a cardiomyocyte transcriptional program for differentiation, suggested as mechanisms. These studies provide a strong foundation for further study of feto-placental coupling and hypoxic stress in the genesis of human CHD.


Assuntos
Hipóxia/embriologia , Troca Materno-Fetal/fisiologia , Oxigênio/metabolismo , Animais , Estudos de Casos e Controles , Modelos Animais de Doenças , Feminino , Feto/fisiopatologia , Idade Gestacional , Cardiopatias Congênitas/etiologia , Humanos , Hipóxia/metabolismo , Hipóxia/fisiopatologia , Camundongos , Oxigênio/fisiologia , Placenta/metabolismo , Placenta/fisiopatologia , Placentação/fisiologia , Pré-Eclâmpsia/etiologia , Gravidez , Cuidado Pré-Natal , Ratos , Transdução de Sinais
17.
Birth Defects Res ; 110(20): 1504-1516, 2018 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-30576094

RESUMO

Congenital heart disease (CHD) is the most common type of birth defect and is both a significant pediatric and adult health problem, in light of a growing population of survivors. The etiology of CHD has been considered to be multifactorial with genetic and environmental factors playing important roles. The combination of advances in cardiac developmental biology, which have resulted in the elucidation of molecular pathways regulating normal cardiac morphogenesis, and genome sequencing technology have allowed the discovery of numerous genetic contributors of CHD ranging from chromosomal abnormalities to single gene variants. Conversely, mechanistic details of the contribution of environmental factors to CHD remain unknown. Maternal diabetes mellitus (matDM) is a well-established and increasingly prevalent environmental risk factor for CHD, but the underlying etiologic mechanisms by which pregestational matDM increases the vulnerability of embryos to cardiac malformations remains largely elusive. Here, we will briefly discuss the multifactorial etiology of CHD with a focus on the epidemiologic link between matDM and CHD. We will describe the animal models used to study the underlying mechanisms between matDM and CHD and review the numerous cellular and molecular pathways affected by maternal hyperglycemia in the developing heart. Last, we discuss how this increased understanding may open the door for the development of novel prevention strategies to reduce the incidence of CHD in this high-risk population.


Assuntos
Coração Fetal/efeitos dos fármacos , Cardiopatias Congênitas/etiologia , Hiperglicemia/complicações , Animais , Cardiomegalia/etiologia , Diabetes Mellitus/fisiopatologia , Diabetes Gestacional/fisiopatologia , Modelos Animais de Doenças , Feminino , Coração Fetal/embriologia , Cardiopatias Congênitas/genética , Humanos , Incidência , Camundongos , Mães , Gravidez , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Prevalência , Fatores de Risco
18.
Medicine (Baltimore) ; 97(50): e13617, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30558042

RESUMO

BACKGROUND: Congenital heart disease (CHD) is one of the most common birth defects; however, the mechanisms underlying its development are poorly understood. Recently, heritable genetic factors, including copy number variations (CNVs) and single nucleotide polymorphisms (SNPs), have been implicated in its etiology. The aim of this study was to investigate the utility of a SNP array for the prenatal diagnosis of CHD and the improvement of prenatal genetic counseling and to compare this approach to traditional chromosome analysis. METHODS: One hundred and fortysix cases of CHD detected by prenatal echocardiography were analyzed. Of these, 110 were isolated CHD and 36 were of CHD with extracardiac defects. SNP analysis was performed using the Affymetrix CytoScan HD platform, which was followed by karyotype analysis. All annotated CNVs were validated by fluorescence in situ hybridization. RESULTS: Karyotype analysis identified chromosomal abnormalities in 19 of 146 cases. In addition to the 15 chromosomal abnormalities that were consistent with the results of karyotype analysis, the SNP array identified abnormal CNVs in an additional 15.2% (22/145) cases; of these, 15 were pathogenic CNVs, three were variations of uncertain clinical significance, and four were benign CNVs. The rates at which the SNP array detected pathogenic CNVs differed significantly between cases of isolated CHD and CHD with extracardiac defects (13.6% vs. 72.2%, P = .001). The results of the SNP array also affected the rate of pregnancy termination. CONCLUSION: Combining SNP array with cytogenetic analyses is particularly effective for identifying chromosomal abnormalities in CNVs in fetuses with CHD, which also affects obstetrical outcomes.


Assuntos
Análise Citogenética/métodos , Cardiopatias Congênitas , Cariotipagem/métodos , Polimorfismo de Nucleotídeo Único/genética , Diagnóstico Pré-Natal/métodos , China/epidemiologia , Aberrações Cromossômicas , Variações do Número de Cópias de DNA/genética , Ecocardiografia/métodos , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/epidemiologia , Doenças Fetais/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia , Humanos , Gravidez , Resultado da Gravidez/epidemiologia , Cuidado Pré-Natal/métodos , Reprodutibilidade dos Testes
19.
Salud Colect ; 14(3): 531-544, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30517561

RESUMO

This article explores the sociocultural aspects of a program of pediatric cardiology health brigades that provides care to children from low-income populations in peripheral regions of Colombia. We analyzed the brigades as a humanitarian strategy to close the gaps of inequity in access to health care, and as a particular context of the medical encounter, the experience of heart disease and the definition of care trajectories. Based on ethnographic observation of brigades and interviews with families receiving care and with health personnel, carried out in 2016 in five different cities, we looked at the dynamics that shape the medical encounter and questioned the mechanisms (medical and social) through which it is evaluated and decided which families can access care in Bogota. We conclude that the brigades, as initiatives that continue to be anchored in humanitarism instead of contributing to the transformation of the conditions that generate health inequities, reproduce and exacerbate such inequities by selecting which lives receive priority to be saved.


Assuntos
Acesso aos Serviços de Saúde/organização & administração , Disparidades nos Níveis de Saúde , Disparidades em Assistência à Saúde , Cardiopatias Congênitas , Serviços de Saúde Rural/organização & administração , Determinantes Sociais da Saúde , Triagem/organização & administração , Adolescente , Altruísmo , Cardiologia , Criança , Pré-Escolar , Colômbia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/terapia , Humanos , Lactente , Recém-Nascido , Pediatria , Saúde da População Rural , Triagem/métodos , Populações Vulneráveis
20.
Rev. chil. endocrinol. diabetes ; 11(4): 148-155, dic. 2018. ilus, tab, graf
Artigo em Espanhol | LILACS | ID: biblio-968639

RESUMO

Turner syndrome (TS) is a common disorder (1/2.000 women) that affects multiple organs at different stages of life and needs a multidisciplinary approach. It can be present in women of all ethnicities and is caused by a monosomy of the X chromosome that causes a haploinsufficiency of certain genes. Its main features consist of specific but variables physical characteristics, congenital heart defects, renal anomalies, middle and inner ear diseases, skeletal alterations, and from the endocrinological point of view, short stature and ovarian insufficiency. Given the comorbidities associated with TS, it has been estimated that they have an increased risk of mortality (up to 3 times more) and a reduction in life expectancy of approximately 13 years. Depending on the genotype, the abnormalities can become very subtle, in these cases the diagnosis is late, when the adolescent consults, for example, for primary amenorrhea or an adult woman for infertility. Once the diagnosis is confirmed by a karyotype, these patients must remain in pediatric control in a continuous way to investigate associated pathologies in a timely manner, with periodic evaluations by specialists, such as otolaryngologists, cardiologists, neurologists and endocrinologists, among others. Numerous advances in the care of these patients gave rise to new guidelines published in 2017. In this article we will comment on the main conditions associated with TS and its specific etiology, we will mention what is relevant regarding the genotype-phenotype relationship in this syndrome and we will discuss the fundamental aspects of the control of the TS patient, with emphasis on the treatment of short stature and ovarian insufficiency, as well as the cardiovascular aspects and those related to fertility.


El Síndrome de Turner (ST) es una patología frecuente (1/2.000 mujeres) que afecta múltiples órganos en distintas etapas de la vida y necesita un enfoque multidisciplinario. Se produce por una monosomía del cromosoma X que provoca una haploinsuficiencia de determinados genes. Sus características principales consisten en un fenotipo característico pero variable, con presencia de cardiopatías congénitas, anomalías renales, enfermedades del oído medio e interno, alteraciones esqueléticas, y del punto de vista endocrinológico, talla baja e insuficiencia ovárica. Dadas las comorbilidades asociadas al ST, principalmente cardiovasculares (CV), presentan mayor mortalidad con respecto a la población general (hasta 3 veces más). Dependiendo del genotipo, las anomalías pueden llegar a ser muy sutiles, realizándose en estos casos el diagnóstico en forma tardía, cuando la adolescente consulte, por ejemplo, por amenorrea primaria o una mujer adulta por infertilidad. Una vez confirmado el diagnóstico mediante un cariotipo, estas pacientes deben permanecer en control endocrinológico pediátrico en forma continua hasta la transición hacia adultos, con el fin de pesquisar patologías asociadas en forma oportuna. Por ello requieren evaluaciones periódicas por especialistas, tales como otorrinolaringólogos, cardiólogos, neuropsiquiatras, entre otros. Numerosos avances en el cuidado de estas pacientes, dieron origen a nuevas guías publicadas el 2017. En este artículo comentaremos sobre las principales condiciones asociadas al ST y su etiología específica, mencionaremos lo relevante respecto a la relación genotipo-fenotipo en este síndrome y discutiremos los aspectos fundamentales del control de la paciente con ST, haciendo énfasis en el tratamiento de la talla baja y la insuficiencia ovárica, así como los aspectos CV y los relacionados a fertilidad.


Assuntos
Humanos , Feminino , Criança , Adolescente , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Otorrinolaringopatias/etiologia , Síndrome de Turner/tratamento farmacológico , Terapia de Reposição de Estrogênios , Estrogênios/uso terapêutico , Disgenesia Gonadal/etiologia , Transtornos do Crescimento/etiologia , Cardiopatias Congênitas/etiologia , Infertilidade Feminina
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