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L Starck I Björkhem EM Ritzén BY Nilsson U von Döbeln 《Acta paediatrica (Oslo, Norway : 1992)》1999,88(7):729-733
In 1993 the Smith-Lemli-Opitz (SLO) syndrome, known as a malformation syndrome characterized by certain stigma, turned out to be a metabolic disease with a defect in the last step of cholesterol biosynthesis. This led to the possibility of identifying affected individuals by biochemical methods and of increasing understanding of pathogenic mechanisms. Hopes of influencing the effects of the metabolic defect by dietary supplementation were raised and reports with some benefits of treatment have been published. This is a report of a 12-y-old girl with the SLO syndrome in an apparently progressive form. In addition to typical signs and well-known symptoms she has a verified polyneuropathy and precocious puberty. She has been treated with cholesterol and bile acids for 3 y, during which time the progressive course has been arrested. A notable effect has been the improvement of her polyneuropathy, verified by measurement of nerve conduction velocities. Possible mechanisms involved in the pathogenesis of her precocious puberty are discussed. 相似文献
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JML White† EM Higgins‡ LC Fuller‡ 《Journal of the European Academy of Dermatology and Venereology》2007,21(8):1061-1064
BACKGROUND: There is currently an epidemic of tinea capitis in urban areas of developed countries caused by Trichophyton tonsurans. Recurrence or re-infection with dermatophyte is not uncommon after adequate oral treatment. Asymptomatic carriers who are household contacts may partly explain this observation by forming a reservoir for infection. PATIENTS/METHODS: Two-hundred and nine household contacts of patients with tinea capitis were examined and screened for asymptomatic carriage of dermatophyte. RESULTS: Only 7.2% had clinically evident disease yet 44.5% had silent fungal carriage on the scalp. Children under 16 years were much more likely to be carriers than adults (P < 0.001) and males were less likely than females to be affected (P < 0.01). CONCLUSION: This evidence poses questions about factors relevant in transmission of dermatophytes. The authors propose that all household contacts of patients with tinea capitis should be offered screening to eradicate a potential reservoir of infection. 相似文献
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OBJECTIVE: To assess the predictive ability of a universal predischarge serum bilirubin measurement to screen for risk of subsequent significant hyperbilirubinemia in the direct Coombs negative healthy term and near-term newborn during the first postnatal week. METHODS: Total serum bilirubin (TSB) levels were obtained at the time of the routine metabolic screen in all term and near-term newborns cared for in the Pennsylvania Hospital Well Baby Nursery (n = 13 003). Postnatal age (in hours) at the time of TSB measurement was recorded. A percentile-based bilirubin nomogram for the first week was constructed from hour-specific predischarge and postdischarge TSB values of newborns (n = 2840; median BW = 3230 g and median gestational age = 39 weeks) who met classification criteria for healthy newborns (excluding those with a positive direct Coombs test or those requiring phototherapy before age 60 hours) and who were enrolled in a hospital supervised home or outpatient follow-up program. The accuracy of the predischarge TSB as a predictor of subsequent degree of hyperbilirubinemia was determined. RESULTS: The study patients in the nomogram were racially diverse. Nearly 60% were breastfed. Predischarge, 6.1% of the study population (172/2840) had TSB values in the high-risk zone (>/=95th percentile) at 18 to 72 hours; of these, 39.5% (68/172) remained in that zone (likelihood ratio [LR] = 14.08, sensitivity = 54%; specificity = 96.2%, probability = 39.5%). Predischarge, 32.1% of the population (912/2840) had TSB values in the intermediate-risk zone. In a clinically significant minority of these newborns (58/912 or 6.4%), the postdischarge TSB moved into the high-risk zone (LR of this move: 3.2 from the upper-intermediate zone and.48 from the lower-intermediate risk zone). The predischarge TSB in 61.8% of the newborns (1756/2840) was in the low-risk zone (<40th percentile) and there was no measurable risk for significant hyperbilirubinemia (LR = 0, sensitivity = 100%; specificity = 64.7%; probability = 0%). CONCLUSIONS: An hour-specific TSB before hospital discharge can predict which newborn is at high, intermediate or low risk for developing clinically significant hyperbilirubinemia (specifically defined as TSB levels >/=95th percentile for age in hours). Risk designation and subsequent increases or decreases of in TSB can be easily monitored on an hour-specific percentile based predictive bilirubin nomogram. A predischarge TSB measured as a universal policy would facilitate targeted intervention and follow-up in a safe, cost-effective manner. In conjunction with bilirubin practice parameter of the American Academy of Pediatrics, it could reduce the potential risk for bilirubin-induced neurologic dysfunction. 相似文献
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Autoimmune hemolytic anemia in Kawasaki disease: a case report 总被引:1,自引:0,他引:1
A 3-year-old boy presented with the fever, conjunctivitis, rash, and lymphadenopathy diagnostic of Kawasaki disease. Treatment with antibiotics, aspirin, and intravenous immunoglobulin was instituted. The hematocrit decreased from 35 percent on admission to 11 percent by hospital Day 10, and the white cell count had increased from 13.7 to 42 × 10(3) per microL, and the patient had a leukoerythroblastic blood smear. The direct antiglobulin test demonstrated IgG but not complement on the red cell (RBC) surface. An acid eluate reacted (titer of 4) with all panel cells in the antiglobulin phase. Intravenous immunoglobulin from the same lot used for treatment did not contain antibody that reacted with the patient's group O RBCs or a panel of group O RBCs, but did contain IgG anti-A and -B (titer of 4). The patient received a transfusion and was given methylprednisone. The direct antiglobulin test and acid eluate were negative 4 days later. The patient had an uneventful recovery. The distinction between antibody-mediated hemolytic anemia and autoimmune hemolytic anemia is important in the treatment of this disease. 相似文献