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食管闭锁和气管食管瘘的遗传发病机制、诊断和治疗的最新进展:综述。

Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review.

机构信息

From the Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons/NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY.

the Division of Pediatric Surgery, Department of Surgery, Columbia University Vagelos College of Physicians and Surgeons/NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY.

出版信息

J Pediatr Gastroenterol Nutr. 2023 Dec 1;77(6):703-712. doi: 10.1097/MPG.0000000000003952. Epub 2023 Sep 29.

Abstract

Infants born with esophageal atresia and tracheoesophageal fistula, a complex congenital malformation occurring in 1/2500-4000 live births, may suffer threats to their cardiac, respiratory, and digestive health in addition to anomalies that may exist in the genitourinary and musculoskeletal systems. Optimal care for these patients throughout their lives is best achieved through a coordinated, multidisciplinary approach that our health care system is not always well-equipped to provide. This review, though not exhaustive, highlights the components of care that pertain to initial surgical reconstruction and subsequent diagnosis and management of the complications that are most frequently encountered. Authors from among the many specialties involved in the care of these patients summarize the current best practice with attention to the most recent advances. Assessment and improvement of quality of life and transition to adult specialists as children grow to adulthood is also reviewed.

摘要

患有食管闭锁和气管食管瘘的婴儿是一种复杂的先天性畸形,在每 2500-4000 例活产中会发生 1 例,除了可能存在于泌尿生殖系统和肌肉骨骼系统的异常外,还可能威胁到其心脏、呼吸和消化系统的健康。通过协调的多学科方法,为这些患者提供终生的最佳护理,而我们的医疗保健系统并不总是能够很好地提供这种方法。本综述虽然不详尽,但突出了与最初的外科重建以及后续最常遇到的并发症的诊断和管理相关的护理内容。来自于参与这些患者治疗的众多专业领域的作者总结了当前的最佳实践,并关注了最新的进展。还评估了生活质量的评估和改善以及随着儿童成长为成年人向成人专科医生的过渡。

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