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MYELOMENINGOCELE

Posted by Surgery on Nov 12, 2008
(MMC:) is a neural tube defect in which the protective meningeal and bony coverings of the spinal cord fail to form correctly, leaving an exposed abnormal neural placode. MMC is nonlethal, but associated with high morbidity and affects 1 in 1,000 live births (84). Neurologic disabilities associated with MMC include paraplegia below the level of the lesion, urinary and fecal incontinence, sexual dysfunction, and skeletal abnormalities (85:). However, there is considerable variation among these abnormalities associated with a specific defect. The deficits are believed to be multifactorial, with an inherent deficit associated with abnormal neurulation, and a postulated secondary of injury imposed by exposure of the neural placode to the amniotic environment.
can be diagnosed as early as the first trimester with US and MRI (:) (84:). Nearly all MMC-afflicted patients have an associated Chiari hindbrain malformation, and most also develop hydrocephalus (85). Chiari malformation is a pancerebral anomaly resulting from herniation of the medulla, cerebellar tonsils, and vermis through the foramen magnum.

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Apnea of Prematurity

Posted by Surgery on Nov 11, 2008
Apnea of prematurity (AOP) is the cessation of airflow, whether obstructive, central, or mixed, lasting 10 to 20 seconds that may be accompanied by cyanosis or bradycardia. The frequency of AOP increases with decreasing GA. Approximately 25% of infants weighing less than 2,500 g have one episode of apnea. The incidence increases to 90% in infants less than 1,000 g. The onset is often between 5 and 10 days of life.
AOP is usually of mixed etiology with both central and obstructive mechanisms playing a role. Pharyngeal competence in premature infants contributes significantly to AOP. During rapid eye movement sleep, the predominant form of premature sleep, breathing efforts are disorganized. The AOP episode may begin with decreased pharyngeal dilation followed by breathing efforts that lead to further airway collapse, then reflex swallowing and/or central apnea. Premature infants respond to hypoxia with an initial increase in minute ventilation, followed by a return to baseline or a decreased rather than an increased minute ventilation, as is seen in older infants and children. Premature infants also respond to hypercarbia by decreasing respiratory effort. Thus, the cycle of apnea can lead to a continuous spiral unless monitored and treated appropriately.

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Surgical Conditions for Transfer

Posted by Surgery on Nov 8, 2008
Antenatal ultrasound allows diagnosis of many congenital anomalies early in pregnancy. Parents can receive counseling and referral to regional perinatal centers where obstetric, neonatal, and surgical services can be coordinated. ( )
Despite advances in antenatal diagnosis and planning, undetected anomalies, unexpected changes in obstetric condition, and transfer within medical center complexes will continue to occur. Surgical conditions, including abdominal wall defects, thoracic anomalies, and intraabdominal pathologies, require special considerations for support and care in transport.
Infants with abdominal wall defects, including gastroschisis and omphalocele, may have large areas of exposed viscera. Heat and fluids are readily lost across the exposed surface. In these infants, fluid losses include free water, electrolytes, and protein. Care of these babies includes special attention to thermal support and fluid management.

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FETAL THERAPY FOR COMPLICATIONS OF MONOCHORIONIC TWINNING

Posted by Surgery on Nov 5, 2008
All multiple gestation pregnancies have a higher risk of fetal morbidity and mortality than singleton pregnancies. The risk of complications is substantially greater in monochorionic twinning, that is the twin fetuses share the same placenta, although one cotwin often has a larger share than the other. Overall, dizygotic twins who arise from the fertilization of two separate ova and therefore separately implant, subsequently producing two separate placentae (dichorionic:), are much more common. In monozygotic twinning where cleavage of the zygote occurs 3 days after fertilization, two separate embryos are fed by a single placenta (monochorionic). Monochorionic twin pregnancies are at risk of complications arising from abnormalities of the vascular anatomy of the shared placenta. Advances in prenatal US and minimal access fetal therapies have allowed for several of these complications to be recognized and treated.

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APPROACH TO EVALUATION OF MALFORMATIONS

Posted by Surgery on Nov 3, 2008

When one encounters what appears to be an isolated congenital malformation, it is essential to evaluate the child for associated syndromes and associations. Clinical guidelines for the evaluation of a newborn with single or multiple congenital anomalies have been put together to assist health care providers in this process. However, often consultation with a clinical geneticist to assist with this evaluation and to guide appropriate genetic testing and counseling is needed. Many birth defects can be seen as part of a syndrome, and identification of a syndrome can significantly alter prognosis and recurrence risk counseling. Table 2-1 lists some selected syndromes that can be associated with four common congenital malformations. The goal of Table 2-1 is to demonstrate the wide range of conditions associated with these malformations and is by no means exhaustive; in fact, each malformation on Table 2-1 is associated with several other syndromes. Table 2-1 emphasizes the importance of evaluating patients with these birth defects, not only to provide accurate recurrence risks, but also to provide families with information regarding prognosis.

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