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41.
The classic principles put forth by Wilson and Jungner are often applied to determine the suitability of a condition for universal newborn screening. The three cases described here portray the harmful effects of vitamin B12 deficiency in infancy. The challenges and opportunities of early recognition and treatment are highlighted. Screening newborns would allow early detection and prevention of severe neurological damage in vitamin B12‐deficient infants and enable diagnosis of unrecognized maternal pernicious anemia in asymptomatic mothers. However, lack of standardized methodology and screening cutoffs present challenges to the use of current tandem mass spectrometry technologies for screening.  相似文献   
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Objective. Compare airway pressure measurements at the ventilator Y-piece of the breathing circuit (P Y ) to intratracheal pressure measured at the distal end (P T ) of the endotracheal tube (ETT) during mechanical ventilation and spontaneous breathing of intubated children. Methods. Thirty children (age range 29 days to 5 years) receiving general anesthesia were intubated with an ETT incorporating a lumen embedded in its sidewall that opened at the distal end to measure P T . Peak inflation pressure (PIP) was measured at P Y and P T during positive pressure ventilation. Just before extubation, all measurements were repeated and imposed resistive work of breathing (WOBi) was calculated at both sites while breathing spontaneously. Results. Average PIP was approximately 25% greater at P Y (19.7 ± 3.4 cm H2O) vs. P T (15.0 ± 2.9 cm H2O), p < 0.01. During spontaneous inhalation P T was 59% lower ({bond}8.5 ± 4.0 cm H2O) vs. P Y ({bond}3.5 ± 2.0 cm H2O), p < 0.01. WOBi measured at P Y (0.10 ± 0.02 Joule/L) was 86% less than WOBi measured at P T (0.70 ± 0.40 Joule/L), p < 0.01. Conclusions. In healthy children P Y significantly overestimates PIP in the trachea during positive pressure ventilation and underestimates the intratracheal airway pressure during spontaneous inhalation. During positive pressure ventilation P T better assesses the pressure generated in the airways and lungs compared to P Y because P T also includes the difference in airway pressure across the ETT tube due to resistance. During spontaneous inhalation, P T reflects the series resistance of the ETT and ventilator circuit, while P Y reflects only the resistance of the ventilator circuit, accounting for the smaller decreases in pressure. Additionally, P Y underestimates the total WOBi load on the respiratory muscles. Thus, P T is a more accurate reflection of pulmonary airway pressures than P Y and suggests that it should be incorporated into ventilator systems to more accurately trigger the ventilator and to reduce work of breathing.  相似文献   
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Primary osteosarcoma accounts for 3% of all childhood cancer. It commonly occurs during the adolescent growth spurt and is more common in boys than girls and in African Americans than white people. The 5‐year survival is approximately 79%. Cardiac metastasis of osteosarcoma is exceedingly rare; we present an unusual case in a 22‐year‐old man with significant intracardiac tumor burden. Additionally, we review the current pediatric cardiac tumor literature.  相似文献   
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Bidirectional Glenn shunt is usually performed in patients with single ventricle in preparation for a total cavo‐pulmonary connection. We present a patient born with complex congenital heart disease consisting of single ventricle, pulmonary atresia, non confluent pulmonary arteries, and anomalous pulmonary venous return in whom surgical bidirectional Glenn was attempted. After multiple surgical attempts she was converted to a Classic Glenn and a central ascending aorta to left pulmonary artery shunt. Several years later by the aid of radiofrequency wire the occluded pulmonary artery segment was canalized establishing continuity between the two pulmonary artery branches with stenting of the intervening segment. The central shunt to the left pulmonary artery was subsequently embolized. Thus this patient was converted in the catheterization laboratory from the physiology of a classic Glenn to the more preferred bidirectional Glenn physiology. © 2011 Wiley Periodicals, Inc.  相似文献   
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Daniel N. Ronel  MD  FAAP    Robert G. Schwager  MD  FACS    Marc R. Avram  MD  FAAD 《Dermatologic surgery》2004,30(3):446-449
BACKGROUND: Radiotherapy for tinea capitis was widely used in the 1930s and 1940s. There is a fourfold increase in the risk for developing nonmelanoma skin cancer in the scalp. Excision of lesions is challenging, as tissue around the wound is atrophic and susceptible to ischemia. OBJECTIVE: To discuss the risk of skin cancer in the older patient who received scalp radiotherapy in childhood and options for scalp reconstruction after excision. METHODS: A woman developed squamous cell carcinoma on the scalp 67 years after radiotherapy for tinea capitis. RESULTS: The large excision defect was successfully grafted, avoiding the need for complex scalp reconstruction. CONCLUSION: Patients who received scalp radiotherapy in childhood are at increased risk of developing nonmelanoma skin cancer. The unique anatomy of scalp tissue makes it difficult to close excisional defects. Skin grafting often fails, and complex flaps or the importation of vascularized tissue may be required.  相似文献   
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