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Combined immunodeficiency (SCID) can be isolated and involve the immune system only or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems. We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology. 相似文献
967.
GW ten Tusscher J de Weerdt CM Roos RW Griffioen FH De Jongh M Westra JW van der Slikke J Oosting K Olie JG Koppe 《Acta paediatrica (Oslo, Norway : 1992)》2001,90(11):1292-1298
Perinatal exposure to Dutch background dioxin levels is rather high. Studies of calamities have shown that dioxins negatively influence the respiratory system. It was hypothesized that perinatal exposure to background dioxin levels leads to lung suboptimality, probably through developmental interference. This study aimed to assess lung function in relation to perinatal dioxin exposure. Spirometry was performed in 41 healthy children (aged 7-12 y, mean 8.2 y) with known perinatal dioxin exposure. The ratio of forced expiratory volume in 1 s to forced vital capacity (FEV 1 /FVC ratio) was determined. A complete medical history was taken. The prenatal exposure ranged from 8.74 to 88.8 (mean 34.6) ng TEQ dioxin kg fat -1 , measured in breast milk. The postnatal exposure ranged from 4.34 to 384.51 (mean 75.4) ng TEQ dioxin. Twelve children had to be excluded. significant decrease in lung function in relation to both prenatal ( p = 0.045) and postnatal ( p = 0.0002) dioxin exposure was seen in the 29 non-excluded children. A clinical association between chest congestion and perinatal dioxin exposure was seen.
Conclusion: Perinatal background dioxin exposure may be inversely associated with the FEV 1 /FVC ratio. 相似文献
Conclusion: Perinatal background dioxin exposure may be inversely associated with the FEV 1 /FVC ratio. 相似文献
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969.
C. Baldry MDCM S. B. Backman MD CM PhD FRCPC P. Metrakos MDCM PhD FRCSC J. Tchervenko MDCM FRCSC J. Barkun MDCM FRCSC A. Moore MD FRCPC 《Journal canadien d'anesthésie》2000,47(7):642-646
PURPOSE: Orthotopic liver transplantation is typically associated with large volume blood loss. Technological and pharmacological advances permit liver transplantation in patients who formerly were not candidates for this surgery because of strict limitations on blood product administration. We describe a liver transplant in a Jehovah's Witness with ankylosing spondylitis. CLINICAL FEATURE: A 49-yr-old Jehovah's Witness with ankylosing spondylitis and end stage liver disease secondary to sclerosing cholangitis underwent orthotopic liver transplantation. Recombinant human erythropoietin (4,000 IU sc every two days for four weeks, then 4,000 IU sc every week) established a normal hemoglobin concentration preoperatively (> 140 g x L(-1) compared with 120 g x L(-1) baseline). Intraoperatively, strategies for reducing risk of blood product transfusion included avoidance of hypothermia (T>35 degrees C), minimal blood sampling (four 1 ml samples), normovolemic hemodilution (two units), administration of Aprotinin (2 million units bolus dose followed by infusion of 500,000 u x hr(-1)), and return of blood (1,500 ml) scavenged from the operative field. Estimated blood loss was 2,200 mi. The preoperative and postoperative hemoglobin concentration was 147 g x L(-1) (hematocrit 0.45) and 123 g x L(-1) (hematocrit 0.37), respectively. No blood products were required and he was discharged three weeks postoperatively without complication. CONCLUSION: Technological and pharmacological advances allow patients to undergo surgery traditionally associated with large volume blood loss with reduced risk of blood product administration. 相似文献
970.
Esther MJ Bols Bary CM Berghmans Erik JM Hendriks Rob A de Bie Jarno Melenhorst Wim G van Gemert Cor GMI Baeten 《BMC public health》2007,7(1):355