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1.
J Pediatr Gastroenterol Nutr ; 78(6): 1225-1233, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38623953

RESUMO

OBJECTIVES: Using high resolution impedance manometry (HRIM), this study characterized the esophago-gastric junction (EGJ) dynamics in children with esophageal atresia (EA). METHOD: Esophageal HRIM was performed in patients with EA aged less than 18 years. Objective motility patterns were analyzed, and EGJ data reported. Controls were pediatric patients without EA undergoing investigations for consideration of fundoplication surgery. RESULTS: Seventy-five patients (M:F = 43:32, median age 1 year 3 months [3 months-17 years 4 months]) completed 133 HRIM studies. The majority (64/75, 85.3%) had EA with distal tracheo-esophageal fistula. Compared with controls, liquid swallows were poorer in patients with EA, as evident by significant differences in distension pressure emptying and bolus flow time (BFT). The integrated relaxation pressure for thin liquid swallows was significantly different between EA types, as well as when comparing patients with EA with and without previous esophageal dilatations. The BFT for solid swallows was significantly different when compared with EA types. CONCLUSIONS: We have utilized HRIM in patients with EA to demonstrate abnormalities in their long-term EGJ function. These abnormalities correlate with poorer esophageal compliance and reduced esophageal peristalsis across the EGJ. Understanding the EGJ function in patients with EA will allow us to tailor long-term management to specific patients.


Assuntos
Impedância Elétrica , Atresia Esofágica , Junção Esofagogástrica , Manometria , Humanos , Atresia Esofágica/cirurgia , Atresia Esofágica/fisiopatologia , Manometria/métodos , Feminino , Lactente , Masculino , Junção Esofagogástrica/fisiopatologia , Pré-Escolar , Criança , Adolescente , Deglutição/fisiologia , Estudos de Casos e Controles , Fístula Traqueoesofágica/cirurgia , Fístula Traqueoesofágica/fisiopatologia
2.
Pediatr Res ; 90(1): 66-73, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33159185

RESUMO

BACKGROUND: Patients following repair of an esophageal atresia (EA) or tracheoesophageal fistula (TEF) carry an increased risk of long-term cardiopulmonary malaise. The role of the airway microbiome in EA/TEF patients remains unclear. METHODS: All EA/TEF patients treated between 1980 and 2010 were invited to a prospective clinical examination, spirometry, and spiroergometry. The airway microbiome was determined from deep induced sputum by 16 S rRNA gene sequencing. The results were compared to a healthy age- and sex-matched control group. RESULTS: Nineteen EA/TEF patients with a mean age of 24.7 ± 7 years and 19 age- and sex-matched controls were included. EA/TEF patients showed a significantly lower muscle mass, lower maximum vital capacity (VCmax), and higher rates of restrictive ventilation disorders. Spiroergometry revealed a significantly lower relative performance capacity and lower peak VO2 in EA/TEF patients. Alpha- and beta-diversity of the airway microbiome did not differ significantly between the two groups. Linear discriminant effect size analysis revealed significantly enriched species of Prevotella_uncultured, Streptococcus_anginosus, Prevotella_7_Prevotella_enoeca, and Mogibacterium_timidum. CONCLUSION: EA/TEF patients frequently suffer from restrictive ventilation disorders and impaired cardiopulmonary function associated with minor alterations of the airway microbiome. Long-term examinations of EA/TEF patients seem to be necessary in order to detect impaired cardiopulmonary function. IMPACT: The key messages of the present study are a significantly decreased VCmax and exercise performance, as well as airway microbiome differences in EA/TEF patients. This study is the first to present parameters of lung function and exercise performance in combination with airway microbiome analysis with a mean follow-up of 24 years in EA/TEF patients. Prospective, long-term studies are needed to unravel possible interactions between alterations of the airway microbiome and impaired pulmonary function in EA/TEF patients.


Assuntos
Atresia Esofágica/cirurgia , Microbiota , Adulto , Estudos de Casos e Controles , Atresia Esofágica/microbiologia , Atresia Esofágica/fisiopatologia , Feminino , Humanos , Masculino , Estudos Prospectivos , Adulto Jovem
3.
J Pediatr ; 218: 130-137, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31982089

RESUMO

OBJECTIVES: To examine factors that may affect nutritional status in adolescents with esophageal atresia. STUDY DESIGN: Anthropometric measurements, blood samples, pH measuring, mapping of dysphagia with a modified Easting Assessment Test questionnaire, 4-day dietary record, and a semistructured interview about eating habits and nutrition counseling were performed in a cross-sectional cohort of adolescents with esophageal atresia. RESULTS: Out of 102 eligible patients, 68 (67%) participated. The median height-for-age Z score was -0.6 (-4.6 to 1.8). Ten (15%) were classified as stunted (height-for-age Z score <-2). Fourteen (21%) were overweight. More than two-thirds reported symptoms of dysphagia (Easting Assessment Test score ≥3) and avoided specific foods. Forty-eight (71%) completed the 4-day dietary record, which showed daily intake of energy below age-appropriate recommendations. One-third reported an energy intake below their estimated basal metabolic rate. Only 24% had received counselling from a dietitian. CONCLUSIONS: Adolescents with a history of esophageal atresia have growth below reference values and energy intake below recommendations. Energy intake and its relation to stunting needs to be further studied in patients with esophageal atresia.


Assuntos
Atresia Esofágica/fisiopatologia , Atresia Esofágica/terapia , Estado Nutricional , Adolescente , Antropometria , Índice de Massa Corporal , Estudos Transversais , Transtornos de Deglutição/complicações , Transtornos de Deglutição/fisiopatologia , Dieta , Ingestão de Energia , Feminino , Seguimentos , Refluxo Gastroesofágico/fisiopatologia , Humanos , Concentração de Íons de Hidrogênio , Masculino , Micronutrientes , Noruega , Sobrepeso , Inquéritos e Questionários , Adulto Jovem
4.
Am J Med Genet A ; 182(8): 1890-1895, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32573094

RESUMO

Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Congênitas/diagnóstico , Atresia Esofágica/diagnóstico , Cardiopatias Congênitas/diagnóstico , Diagnóstico Pré-Natal , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/fisiopatologia , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/fisiopatologia , Síndrome de Down/diagnóstico , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/fisiopatologia , Atresia Esofágica/complicações , Atresia Esofágica/diagnóstico por imagem , Atresia Esofágica/fisiopatologia , Esôfago/diagnóstico por imagem , Esôfago/fisiopatologia , Feminino , Feto/anormalidades , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/fisiopatologia , Humanos , Recém-Nascido , Rim/diagnóstico por imagem , Rim/fisiopatologia , Masculino , Gravidez , Traqueia/diagnóstico por imagem , Traqueia/fisiopatologia
5.
Dis Esophagus ; 33(1)2020 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-31907526

RESUMO

Although eating problems have been described as long-term morbidities of esophageal atresia (EA), there have been few studies exploring eating outcomes in children born with EA as primary aim. Parents of children operated on for EA in our Institution from January 2012 to January 2016, answered a telephone structured interview developed specifically to conduct the present study, assessing eating skills at 3 years of age. Clinical data were collected from children's medical records. Parents (45 mothers and 6 fathers) of 51 children (male = 34; female = 17) with a median age of 3.5 years form the object of the study. Considering eating problems, parents reported that 23 children (45%) still have episodes of choking during meals at 3 years of age, 9 (45%) of these have more than one episode a week, and 19 parents (39%) reported higher levels of anxiety during mealtimes. Forty-four children (86%) were described by their parents as able to eat alone, 32 (65%) accepted all food textures and 45 (90%) was described as curious about food (3 years). Forty-three (86%) parents let their children eat with other people. Correlations showed that weaning age was significantly associated with number of dilatations (rs = 0.35, P = 0.012), days of mechanical ventilation (rs = 0.40, P < 0.001), and presence of gastrostomy tube at discharge (rs = 0.45, P < 0.001). Chewing age resulted associated with number of dilatations (rs = 0.34, P < 0.01) and days of mechanical ventilation (rs = 0.38, P < 0.01). Presence of choking episodes was associated with curiosity about food (rs = 0.29, P < 0.05), while frequent choking episodes were associated with higher parental anxiety during mealtimes (rs = 0.45, P < 0.05). In order to prevent delay in the achievement of eating developmental milestones in children operated on of EA, we advocate a dedicated preventive intervention from birth to follow-up.


Assuntos
Obstrução das Vias Respiratórias/epidemiologia , Atresia Esofágica/fisiopatologia , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Obstrução das Vias Respiratórias/etiologia , Pré-Escolar , Atresia Esofágica/complicações , Atresia Esofágica/terapia , Comportamento Alimentar/fisiologia , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Feminino , Humanos , Masculino , Mastigação/fisiologia , Pais , Inquéritos e Questionários
6.
Dysphagia ; 35(3): 438-442, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31410568

RESUMO

The study aimed to assess concerns of caregivers of children with EA-TEF related to feeding-swallowing difficulties, compare the concerns according to type of atresia and repair time, and investigate its relationship with time to start oral feeding. Caregivers accompanying 64 children with EA-TEF were included. Age, sex, type of atresia, repair time, and time to start oral feeding were noted. Parents completed the Turkish version of the Feeding/Swallowing Impact Survey (T-FS-IS) to assess the concerns of caregivers related to feeding-swallowing difficulties. The T-FS-IS has three subscales including daily activities, worry, and feeding difficulties. The median age of patients was 3 (min = 1, max = 12) years, of which 57.8% were male. 43.8% of cases were isolated-EA, and 56.3% were EA-distal TEF. 57.8% of cases received early repair, and 42.2% had delayed repair. The median time to start oral feeding was 4 weeks (min = 1, max = 128). The mean scores of daily activities, worry, feeding difficulties, and total score from the T-FS-IS were 2.43 ± 1.18, 2.73 ± 1.28, 2.10 ± 0.97, and 2.44 ± 1.09, respectively. Caregivers of children with isolated-EA reported more problems in total score and all subscales of the T-FS-IS than EA-distal TEF (p < 0.01). Caregivers of children who received delayed repair reported more problems in total score and all subscales of the T-FS-IS than children with early repair (p < 0.05). Moderate to strong correlations were found between the T-FS-IS and time to start oral feeding (p < 0.01, r = 0.55-0.65). This study suggests that caregivers of children with isolated-EA and/or delayed repair and/or delay in oral intake may have higher concerns related to feeding-swallowing difficulties.


Assuntos
Cuidadores/psicologia , Transtornos de Deglutição/psicologia , Atresia Esofágica/psicologia , Comportamento Alimentar/psicologia , Complicações Pós-Operatórias/psicologia , Fístula Traqueoesofágica/psicologia , Criança , Pré-Escolar , Efeitos Psicossociais da Doença , Deglutição , Transtornos de Deglutição/etiologia , Atresia Esofágica/fisiopatologia , Atresia Esofágica/cirurgia , Feminino , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/etiologia , Período Pós-Operatório , Fístula Traqueoesofágica/fisiopatologia , Fístula Traqueoesofágica/cirurgia , Traqueotomia , Resultado do Tratamento
7.
Child Care Health Dev ; 45(1): 79-88, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30221367

RESUMO

BACKGROUND: Esophageal atresia (EA) is a rare malformation of the esophagus, which needs surgical treatment. Survival rates have reached 95%, but esophageal and respiratory morbidity during childhood is frequent. Child and parent perspectives and cultural and age-specific approaches are fundamental in understanding children's health-related quality of life (HRQoL) and when developing a pediatric HRQoL questionnaire. We aimed to increase the conceptual and cross-cultural understanding of condition-specific HRQoL experiences among EA children from Sweden and Germany and investigate content validity for an EA-specific HRQoL questionnaire. METHODS: Eighteen standardized focus groups (FGs) with 51 families of EA children aged 2-17 years in Sweden (n = 30 families) and Germany (n = 21 families) were used to explore HRQoL experiences, which were content analyzed into HRQoL domains. The Swedish HRQoL domains were analyzed first and used as framework to evaluate HRQoL content reported in the German FGs. HRQoL experiences were then categorized as physical, social, and emotional HRQoL burden or resource. RESULTS: One thousand nine hundred eight HRQoL statements were recorded. All nine EA-specific HRQoL domains identified in the Swedish FGs (eating, social relationships, general life issues, communication, body issues, bothersome symptoms, confidence, impact of medical treatment, and additional difficulties due to concomitant anomalies) were recognized in the FGs held in Germany, and no additional EA-specific HRQoL domain was found. The HRQoL dimensions referenced physical burden (n = 655, 34.5%), social burden (n = 497, 26.0%), social resources (n = 303, 15.9%), emotional burden (n = 210, 11.0%), physical resources (n = 158, 8.3%), and emotional resources (n = 85, 4.5%). CONCLUSION: This first international FG study to obtain the EA child and his or her parents' perspective on HRQoL suggests Swedish-German qualitative comparability of the HRQoL domains and content validity for a cross-cultural EA-specific HRQoL questionnaire. EA children make positive and negative HRQoL experiences, but prominently related to physical and social burden, which underlines appropriate follow-up care and future research.


Assuntos
Atresia Esofágica/psicologia , Qualidade de Vida/psicologia , Adaptação Psicológica , Adolescente , Criança , Pré-Escolar , Comparação Transcultural , Atresia Esofágica/fisiopatologia , Feminino , Grupos Focais , Alemanha/epidemiologia , Humanos , Masculino , Avaliação das Necessidades , Pais/psicologia , Pesquisa Qualitativa , Autorrelato , Inquéritos e Questionários , Suécia/epidemiologia
8.
Esophagus ; 16(2): 133-140, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30145680

RESUMO

BACKGROUND: The present study aimed to evaluate whether the detailed observation of pH/MII waveforms and the analysis of baseline impedance (BI) values could detect esophageal dysmotility in pediatric patients with esophageal disorders. PATIENTS AND METHODS: Eleven patients with congenital esophageal disorder in whom pH/MII was conducted from April 2011 to June 2015, were enrolled in this study. The diagnoses of the patients were as follows: postoperative esophageal atresia (EA), n = 6; esophageal achalasia (EAch), n = 4; and congenital esophageal stenosis (CES), n = 1. The characteristics of the pH/MII waveform, pathological GERD, BI value, and the average BI value of the 2 distal channels (distal BI; DBI) were analyzed in each disorder. RESULTS: Two EA (33%) patients and one EAch (25%) patient were diagnosed with GERD. The mean DBI values of the EA, EAch and CES patients was 912 ± 550, 2153 ± 915 and 1392 Ω, respectively. The EA patients showed consistently low DBI values. One CES patient and two infantile EAch patients showed postprandial prolonged low DBI values. Whereas, the pH/MII waveforms of the adolescent EAch patients were difficult to interpret due to their extremely low BI values. CONCLUSIONS: The present study demonstrated that the detailed observation of the pH/MII waveforms in all channels and the analysis of BI were useful for evaluating esophageal motility in children with congenital esophageal disorders. In particular, infantile patients with EAch showed DBI findings that were distinct from those of adult EAch patients. Considering the difficulty of performing esophageal manometry in young children, the detailed observation of the pH/MII waveform may help in the diagnosis of esophageal dysmotility in children.


Assuntos
Transtornos da Motilidade Esofágica/diagnóstico , Adolescente , Criança , Pré-Escolar , Impedância Elétrica , Atresia Esofágica/diagnóstico , Atresia Esofágica/fisiopatologia , Transtornos da Motilidade Esofágica/congênito , Transtornos da Motilidade Esofágica/fisiopatologia , Estenose Esofágica/diagnóstico , Estenose Esofágica/fisiopatologia , Monitoramento do pH Esofágico/métodos , Feminino , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/fisiopatologia , Motilidade Gastrointestinal/fisiologia , Humanos , Concentração de Íons de Hidrogênio , Lactente , Masculino , Período Pós-Prandial/fisiologia
9.
Paediatr Respir Rev ; 25: 25-29, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28666768

RESUMO

Post-natal growth in surgical lung conditions, such as congenital diaphragmatic hernia and oesophageal atresia with tracheo-oesophageal fistula, is often sub-optimal in the early years of life when lung growth is occurring. Whilst constitutional, behavioural and mechanical factors may contribute to poor feeding and weight gain, there is a common path of management with greater caloric supplementation that may change growth trajectories and potentially lead to better respiratory, anthropometric and cognitive outcomes. We provide simple, single page, feeding supplementation sheets in three age groups: 0-6months, 6-12months and 12-24months that have proven useful for enhancing weight gain in our patients.


Assuntos
Desenvolvimento Infantil/fisiologia , Atresia Esofágica , Hérnias Diafragmáticas Congênitas , Fenômenos Fisiológicos da Nutrição do Lactente/fisiologia , Ingestão de Energia , Atresia Esofágica/fisiopatologia , Atresia Esofágica/terapia , Hérnias Diafragmáticas Congênitas/fisiopatologia , Hérnias Diafragmáticas Congênitas/terapia , Humanos , Lactente , Recém-Nascido
10.
Adv Neonatal Care ; 18(1): 14-21, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29373345

RESUMO

BACKGROUND: Tracheoesophageal fistula (TEF) and esophageal atresia (EA) are rare anomalies in neonates. Up to 50% of neonates with TEF/EA will have Vertebral anomalies (V), Anal atresia (A), Cardiac anomalies (C), Tracheoesophageal fistula (T), Esophageal atresia (E), Renal anomalies (R), and Limb anomalies (L) (VACTERL) association, which has the potential to cause serious morbidity. PURPOSE: Timely management of the neonate can greatly impact the infant's overall outcome. Spreading latest evidence-based knowledge and sharing practical experience with clinicians across various levels of the neonatal intensive care unit and well-baby units have the potential to decrease the rate of morbidity and mortality. METHODS/SEARCH STRATEGY: PubMed, CINAHL, Cochrane Review, and Google Scholar were used to search key words- tracheoesophageal fistula, esophageal atresia, TEF/EA, VACTERL, long gap, post-operative management, NICU, pediatric surgery-for articles that were relevant and current. FINDINGS/RESULTS: Advancements in both technology and medicine have helped identify and decrease postsurgical complications. More understanding and clarity are needed to manage acid suppression and its effects in a timely way. IMPLICATIONS FOR PRACTICE: Knowing the clinical signs of potential TEF/EA, clinicians can initiate preoperative management and expedite transfer to a hospital with pediatric surgeons who are experts in TEF/EA management to prevent long-term morbidity. IMPLICATIONS FOR RESEARCH: Various methods of perioperative management exist, and future studies should look into standardizing perioperative care. Other areas of research should include acid suppression recommendation, reducing long-term morbidity seen in patients with TEF/EA, postoperative complications, and how we can safely and effectively decrease the length of time to surgery for long-gap atresia in neonates.


Assuntos
Atresia Esofágica , Fístula Traqueoesofágica , Gerenciamento Clínico , Diagnóstico Precoce , Atresia Esofágica/fisiopatologia , Atresia Esofágica/terapia , Humanos , Recém-Nascido , Fístula Traqueoesofágica/congênito , Fístula Traqueoesofágica/fisiopatologia , Fístula Traqueoesofágica/terapia
11.
Isr Med Assoc J ; 20(3): 161-166, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29527854

RESUMO

BACKGROUND: The estimated incidence of esophageal atresia (EA) with or without tracheo-esophageal fistula (TEF) is 1:3500 live births. During childhood these patients have various co-morbidities, but the overall quality of life among adults is similar to that of the general population. OBJECTIVES: To evaluate short- and long-term co-morbidities and quality of life among infants born with EA ± TEF at a large single medical center. METHODS: Medical records of 65 children born over a 21 year period were reviewed for short- and long-term medical data. Telephone interviews were conducted with 46 of their parents regarding medical problems and quality of life after home discharge. RESULTS: The main long-term co-morbidities during the first 2 years of life, 4-6 years of age, and during adolescence (12-16 years) included gastro-esophageal reflux disease (GERD) in 56.5%, 35.8%, and 18.7%, respectively; stridor in 84.8%, 45.2%, and 12.5%, respectively; hyper-reactive airway disease (HRAD) in 43.5%, 35.5%, and 36.5%, respectively; recurrent pneumonia in 43.5%, 32.3%, and 18.8%, respectively; and overall recurrent hospitalizations in 87%, 41.9%, and 25%, respectively. The quality of life was reportedly affected among 100%, 75%, and 33.3% respectively. CONCLUSIONS: Long-term follow-up of patients with EA ± TEF indicates a high burden of co-morbidities during the first 6 years of life, with a gradual decrease in symptoms thereafter. Nevertheless, HRAD continued to impact the daily life of about one-third of the older adolescents, and GERD one-fifth. A long-term multidisciplinary follow-up should be conducted to prevent late onset complications that may affect the quality of life.


Assuntos
Atresia Esofágica/fisiopatologia , Refluxo Gastroesofágico/epidemiologia , Hospitalização/estatística & dados numéricos , Qualidade de Vida , Fístula Traqueoesofágica/fisiopatologia , Adolescente , Hiper-Reatividade Brônquica/epidemiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Entrevistas como Assunto , Masculino , Pneumonia/epidemiologia , Sons Respiratórios/fisiologia , Fatores de Tempo , Adulto Jovem
12.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 47(3): 239-243, 2018 05 25.
Artigo em Zh | MEDLINE | ID: mdl-30226322

RESUMO

Congenital esophageal atresia is one of the serious birth defects. Identifying the etiology and mechanism of esophageal development can provide clues for the effective prevention and treatment of congenital esophageal atresia. Recent studies have shown that a variety of transcription factors and signaling pathways (including Wnt signaling pathway, bone morphogenetic protein signaling pathway, SHH signaling pathway, vascular endothelial growth factor signaling pathway) are involved in esophageal proliferation, differentiation and other processes, promoting the normal development of esophagus. Understanding the regulatory mechanisms during the normal development of esophagus can give reference for the prevention and treatment of congenital esophageal atresia. This article reviews the research progress on related transcription factors and signaling pathways in esophageal development.


Assuntos
Atresia Esofágica , Transdução de Sinais , Fatores de Transcrição , Atresia Esofágica/fisiopatologia , Humanos , Fator A de Crescimento do Endotélio Vascular
13.
Am J Med Genet A ; 173(8): 2139-2157, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28577344

RESUMO

Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA.


Assuntos
Transtornos Cromossômicos/fisiopatologia , Anormalidades Congênitas/fisiopatologia , Atresia Esofágica/fisiopatologia , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Canal Anal/anormalidades , Canal Anal/fisiopatologia , Aberrações Cromossômicas , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/genética , Atresia Esofágica/complicações , Atresia Esofágica/epidemiologia , Atresia Esofágica/genética , Esôfago/anormalidades , Esôfago/fisiopatologia , Feminino , Feto/fisiopatologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/fisiopatologia , Humanos , Rim/anormalidades , Rim/fisiopatologia , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/epidemiologia , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/fisiopatologia , Masculino , Gravidez , Coluna Vertebral/anormalidades , Coluna Vertebral/fisiopatologia , Natimorto , Traqueia/anormalidades , Traqueia/fisiopatologia
14.
Paediatr Respir Rev ; 19: 21-7, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26164203

RESUMO

The current available literature evaluating feeding difficulties in children with esophageal atresia was reviewed. The published literature was searched through PubMed using a pre-defined search strategy. Feeding difficulties are commonly encountered in children and adults with repaired esophageal atresia [EA]. The mechanism for abnormal feeding includes both esophageal and oropharyngeal dysphagia. Esophageal dysphagia is commonly reported in patients with EA and causes include dysmotility, anatomic lesions, esophageal outlet obstruction and esophageal inflammation. Endoscopic evaluation, esophageal manometry and esophograms can be useful studies to evaluate for causes of esophageal dysphagia. Oropharyngeal dysfunction and aspiration are also important mechanisms for feeding difficulties in patients with EA. These patients often present with respiratory symptoms. Videofluoroscopic swallow study, salivagram, fiberoptic endoscopic evaluation of swallowing and high-resolution manometry can all be helpful tools to identify aspiration. Once diagnosed, management goals include reduction of aspiration during swallowing, reducing full column reflux into the oropharynx and continuation of oral feeding to maintain skills. We review specific strategies which can be used to reduce aspiration of gastric contents, including thickening feeds, changing feeding schedule, switching formula, trialing transpyloric feeds and fundoplication.


Assuntos
Transtornos de Deglutição/fisiopatologia , Transtornos de Deglutição/terapia , Atresia Esofágica/fisiopatologia , Apoio Nutricional/métodos , Adulto , Sulfato de Bário , Criança , Meios de Contraste , Esofagoscopia , Humanos , Manometria
15.
Paediatr Respir Rev ; 19: 28-33, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26752295

RESUMO

Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a rare congenital malformation. Digestive and nutritional problems remain frequent in children with EA both in early infancy and at long-term follow-up. These patients are at major risk of presenting with gastroesophageal reflux and its complications, such as anastomotic strictures. Esophageal dysmotility is constant, and can have important consequences on feeding and nutritional status. Patients with EA need a systematic follow-up with a multidisciplinary team.


Assuntos
Atresia Esofágica/complicações , Atresia Esofágica/fisiopatologia , Constrição Patológica/etiologia , Constrição Patológica/fisiopatologia , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Diagnóstico por Imagem , Transtornos da Motilidade Esofágica/etiologia , Transtornos da Motilidade Esofágica/fisiopatologia , Monitoramento do pH Esofágico , Esofagite/etiologia , Esofagite/fisiopatologia , Esofagoscopia , Refluxo Gastroesofágico/etiologia , Refluxo Gastroesofágico/fisiopatologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/fisiopatologia , Humanos , Lactente , Recém-Nascido , Fístula Traqueoesofágica/complicações , Fístula Traqueoesofágica/fisiopatologia
16.
Eur J Pediatr ; 175(6): 825-31, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26979529

RESUMO

UNLABELLED: The purpose of our study was to investigate the importance of amniotic fluid (AF) for fetal growth during late gestation using esophageal atresia (EA) patients as a model. In this retrospective cohort study, we compared the z-scores adapted for birth weights (BW z-scores) for each of 517 European newborns with congenital pre-gastric intestinal atresia, i.e., EA, to a European reference population. To account for the influence of the intestinal atresia on fetal growth per se, we compared adapted birth weights for each of 504 European newborns with post colonic intestinal atresia (anorectal malformation (ARM) with atresia of the anus) to the same European reference population. Analysis of the complete cohort showed (i) a significantly higher rate of small for gestational age newborns among EA compared to ARM newborns (p < 0.001) and (ii) significantly lower BW z-scores among EA compared to ARM newborns (p < 0.001). BW z-scores of EA newborns were significantly lower in term compared to preterm newborns with an inverse correlation with gestational age (GA) (Spearman correlation coefficient, r = -0.185, p < 0.001). CONCLUSIONS: Enteral uptake of AF seems to play a pivotal role in fetal growth during late gestation. WHAT IS KNOWN: • Peak velocity of fetal weight gain occurs at 33 weeks of gestation and continues until birth. During this period, fetal growth is mainly characterized by cellular hypertrophy. • Amniotic fluid (AF) comprises large amounts of hormones and growth regulators. What is New: • A significantly higher rate of small for gestational age and lower birth weights and z-scores are observed among newborn infants with congenital pre-gastric intestinal atresia. • These findings suggest that enteral uptake of AF is a major predictor for fetal growth during late gestation.


Assuntos
Líquido Amniótico/fisiologia , Peso ao Nascer/fisiologia , Colo/anormalidades , Atresia Esofágica/fisiopatologia , Desenvolvimento Fetal , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Atresia Intestinal/fisiopatologia , Malformações Anorretais/fisiopatologia , Estudos de Casos e Controles , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Distribuição por Sexo , Estatísticas não Paramétricas
17.
J Paediatr Child Health ; 52(12): 1090-1094, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27701787

RESUMO

AIM: The aim of this study is to analyse the effect of delayed diagnosis on mortality rates, and evaluate the role of delayed diagnosis as a new prognostic factor in patients with oesophageal atresia (OA), especially in developing countries. METHODS: The records of 80 consecutive patients with OA (2008-2013) were reviewed. Patients were divided into two groups according to the time of diagnosis. As we demonstrated the effect of delayed diagnosis on mortality, we decided to develop a new classification that will be utilised to predict the prognosis of OA. The discrimination ability of the new prognostic classification was compared with those of the Waterston, Montreal and Spitz classifications using the area under the curve. RESULTS: The parameters of the new prognostic classification were birth weight less than 2000 g, the presence of major cardiac/life-threatening anomalies and delay in diagnosis. Class I consisted of patients with none or one of these parameters. Class II consisted of patients with two or three of these parameters. The area under the curve of the new classification was better than those of the other classifications in determining the prognosis of patients with OA. CONCLUSIONS: Delayed diagnosis of OA significantly led to morbidity and mortality. Although delayed diagnosis is not a characteristic of newborn or a marker of severity for OA and is a health care system issue in developing countries, we here point out that it is a prognostic factor in its own right. Our new classification has a superior discriminatory ability compared to the above-mentioned classifications.


Assuntos
Diagnóstico Tardio , Países em Desenvolvimento , Atresia Esofágica/mortalidade , Atresia Esofágica/fisiopatologia , Atresia Esofágica/cirurgia , Feminino , Idade Gestacional , Política de Saúde , Humanos , Recém-Nascido , Masculino , Auditoria Médica
18.
J Paediatr Child Health ; 52(7): 694-8, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27206060

RESUMO

Oesophageal atresia and tracheo-oesophageal fistula are congenital anomalies of the oesophagus requiring surgical repair in infancy, either by open or thoracoscopic approach. Although mortality rates associated with this procedure are low, children may go on to have complications throughout childhood and into adulthood, most commonly related to ongoing gastrointestinal and respiratory symptoms. This review outlines the early, mid and long-term outcomes for these children in terms of quality of life and incidence of symptoms.


Assuntos
Atresia Esofágica/cirurgia , Fístula Traqueoesofágica/cirurgia , Desenvolvimento Infantil , Atresia Esofágica/fisiopatologia , Humanos , Lactente , Qualidade de Vida , Procedimentos Cirúrgicos Operatórios , Fístula Traqueoesofágica/fisiopatologia , Resultado do Tratamento
19.
J Pediatr Gastroenterol Nutr ; 60(6): 776-82, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25564802

RESUMO

OBJECTIVE: The clinical relevance of esophageal baseline impedance (BI) remains to be determined. In the present study, we explored the impact of gastroesophageal reflux disease (GERD) and esophageal dysmotility on BI. METHODS: A total of 18 children with esophageal atresia, 26 children with GERD, and 17 controls prospectively underwent esophagogastroduodenoscopy and pH-impedance monitoring. BI was measured in both proximal and distal esophagus. Gastroesophageal reflux (GER) and bolus transit indicators were defined according to published criteria. RESULTS: Patients with esophageal atresia showed significantly lower proximal and distal BI values (952 [716-1811] Ω; 895 [284-1189] Ω; respectively) compared with those with GERD (3015 [2368-3975] Ω; 2231 [1770-3032] Ω, P < 0.001 and <0.001, respectively) and controls (3699 [3194-4358] Ω; 3522 [2927-3994] Ω, P < 0.001 and <0.001, respectively). Using linear regression, proximal BI strongly correlated with total bolus transit time (r(2) = 0.61, P < 0.001) and bolus presence time (BPT; r(2) = 0.63, P < 0.001). Distal BI weakly correlated with acid exposure time (r(2) = 0.16, P < 0.01) and longstanding reflux episodes (r(2) = 0.17, P < 0.01), and strongly correlated with total bolus transit time (r(2) = 0.53, P < 0.001) and BPT (r(2) = 0.58, P < 0.001). By logistic regression, BPT predicted low proximal BI values (odds ratio [OR] 1.052; P < 0.05), whereas both GER indicators (acid exposure time: OR 1.56, P < 0.05; longstanding reflux episodes: OR 2.8, P < 0.05) and BPT (OR 1.66, P < 0.01) predicted low distal BI values. CONCLUSIONS: Along the length of esophagus, both bolus transit variables and GER significantly affect BI. This suggests that BI may merely mirror phenomena occurring within the esophageal lumen or wall, limiting its value as a discrete clinical entity to replace variables already used for assessing both GERD and esophageal dysmotility.


Assuntos
Impedância Elétrica , Atresia Esofágica/fisiopatologia , Transtornos da Motilidade Esofágica/fisiopatologia , Esôfago/fisiopatologia , Refluxo Gastroesofágico/fisiopatologia , Concentração de Íons de Hidrogênio , Adolescente , Criança , Pré-Escolar , Endoscopia do Sistema Digestório , Monitoramento do pH Esofágico/métodos , Feminino , Humanos , Modelos Logísticos , Masculino
20.
Pediatr Surg Int ; 30(12): 1273-7, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25319797

RESUMO

AIM: We assessed the outcome of 72 cases of type-C esophageal atresia (EAc) treated by open (OR) or thoracoscopic (TR) repair from 2000 to 2013. During OR, direct lung retraction (DLR) is required but during TR, CO2 insufflation causes lung collapse so DLR is unnecessary. METHODS: Patient demographics, operative time, respiratory tract impact (RTI: incidence of atelectasis, timing of extubation, need for reintubation, and duration of chest tube insertion), narcotic usage, commencement of oral feeding, and length of hospitalization (LOH) were compared. RESULTS: Seven long-gap cases were excluded, leaving 65 EAc subjects (TR = 25, OR = 40). Patient demographics, operative time, and duration of chest tube insertion were similar. No TR case required DLR. Significant differences were found in TR for narcotic usage (1.6 vs. 3.1 days), commencement of feeding (7.8 vs. 10.5 days), incidence of atelectasis (8 vs. 30 %), initial extubation (2.8 vs. 5.6 days), and LOH (33 vs. 46 days), (all p < 0.05, respectively). Postoperative tracheal tube blockage caused by excessive secretions (4 vs. 10 %) and reintubation (4 vs. 17.5 %) were less in TR but not significant. There were three anastomotic leakages in TR, one in OR. CONCLUSION: TR is less traumatic than OR because DLR is unnecessary, resulting in lower RTI and smooth recovery.


Assuntos
Atresia Esofágica/cirurgia , Fenômenos Fisiológicos Respiratórios , Toracoscopia/métodos , Toracotomia/métodos , Atresia Esofágica/fisiopatologia , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Resultado do Tratamento
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