[Total agenesis of the left lung, well tolerated in a young man 20 years old].
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Because of the common embryologic origin, alteration of the many factors modulating the development of the alimentary and the respiratory tract often results in structural abnormalities involving the two systems. Indeed, some of the most common embryologic disorders of the airways are frequently associated with anomalies of the gastrointestinal tract. Lung growth occurs as a series of tightly regulated events, depending on a number of factors, including developmental, genetic and environment ones. Abnormalities of any of these factors may causes developmental alterations of the lung leading to a group of disorders termed "bronchopulmonary-foregut malformations". These are usually sporadic, solitary cystic hamartomas, involving conducting airways, arteries, venous drainage, and lung parenchyma, which are now often discovered on routine prenatal sonography. While some lesions may be large and cause serious complications in the foetus or newborn, many will be asymptomatic at birth, raising controversy about management: simple observation or surgery and, if so, at what age? Over the past two decades molecular studies have started to shed light on the complex series of events that control proper formation of the lung, with the hope that a better understanding of the molecular basis of pulmonary maturation will allow the design of new therapeutic strategies.
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Discharge of the newborn within 24 to 48 hours after birth makes it more difficult to detect some congenital malformations and increases the need for careful examination and review of the history of the pregnancy, delivery, and nursery course. Progressive physiologic changes after birth, especially in the cardiovascular system, precede the development of signs indicative of disease for certain congenital malformations. Discharge before these changes occur may delay their detection because the newborn is not being monitored by medical or nursing caregivers. The AAP Committee on the Fetus and Newborn has published guidelines for criteria for safe discharge and follow-up evaluation to help create a safe situation for such early discharges. Some specific observations at birth may lead to earlier diagnosis. Careful attention to subtle differences between the initial and follow-up examination, such as a changing cardiac murmur or quality of pulses or abdominal fullness, may provide clues to the diagnosis of congenital malformations. Coordinated suck and swallow with successful feeding and passage of stool and urine within 24 hours after birth should occur before discharge. Reports of feeding difficulties should be reviewed. Although a thorough examination is facilitated by a sleeping infant, documentation of a normal pitched cry helps in the evaluation of the upper airway. Parents should be counseled about signs of illness that warrant medical attention, and early follow-up is needed to detect problems early enough to intervene effectively. In addition, although passage of a feeding tube through each nare and to the stomach with aspiration and measurement of gastric volume is not a routine procedure in the well, term newborn, this may be a useful early diagnostic tool in infants with signs or a maternal or nursery history suggestive of nasal or GI obstruction.
The question of whether cocaine exposure in utero increases the risk of major structural malformations remains controversial. Most animal studies have demonstrated that cocaine can have a teratogenic effect. The ultimate association between cocaine exposure and fetal development must be inferred from human data. The relative effects of cocaine exposure, exposure to other illicit drugs and alcohol and deficient prenatal care are difficult to assess. Little specific information is available about the amount, duration, and timing of cocaine use during the nine months of pregnancy. Unlike the case with many other teratogens, cocaine exposure at any point in pregnancy can result in some abnormality. The extent of damage and the organ involved depend on the particular stage of morphogenesis. A large scale prospective human study is needed to confirm the suggested teratogenic effects. Since it involves an illicit drug such a study is obviously difficult to perform.
In its broadest sense, the term, foregut duplication encompasses the full spectrum of developmental aberrations of the embryonic foregut (bronchopulmonary and alimentary tract). Evidence is emerging that the notochord may have a pivotal role to play in foregut development through the Shh-GLi signalling pathway. The investigation and management of these lesions depends on the clinical presentation and the level of the foregut affected. The presentation of symptomatic foregut duplications also depends on any space-occupying effect they exert and where specific complications related to the malformation occur, such as when the mucosal lining contains acid-secreting cells. In a minority of cases, (eg, where they cause respiratory compromise or spinal cord compression) urgent intervention is required. In the remainder, precise diagnostic imaging according to the level and location of the foregut duplication provides the necessary information to plan surgical excision of the lesions. Magnetic resonance imaging best shows the relationships of complex bronchopulmonary foregut malformations and associated anomalies of the spine. eg, neurenteric canal. Most lesions can be excised with minimal morbidity. Minimal-access surgical techniques can be applied to the simpler cysts, particularly some bronchogenic cysts. Thoraco-abdominal duplications and neurenteric cysts require careful preoperative delineation and more complex surgery.