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991.
S. Spinty H. Rogozinski G. T. Lealman J. E. Wraith 《Journal of inherited metabolic disease》2003,25(8):697-698
Summary: A female patient with isovaleric acidaemia had a successful outcome from pregnancy. 相似文献
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OBJECTIVE: To explore the presence and grade of denervation in three mimic muscles in facial nerve palsy. METHODS: The frontalis, orbicularis oculi (OO), and mentalis muscles were explored in 54 patients with Bell's palsy, after 30 days from the beginning of symptoms. Concentric needle electromyography, including fibrillation detection, was performed in the three muscles on the affected side. Compound muscle action potentials (CMAP) were recorded on both sides and a CMAP ratio was calculated from each muscle. The House-Brackman scale was used to assess the initial clinical evaluation and the follow-up until recovery. RESULTS: Fibrillation was recorded in 32 patients on the 30th day after the onset and was present in 100% of mentalis and in 90% of frontalis, but in only 34% of OO, a statistically significant difference. The grade of fibrillation in OO was also statistically lower from those in the other two muscles. The 32 patients were grouped according to the presence (A) or not (B) of fibrillation in OO. In group A, CMAP ratios (affected/normal side) did not differ significantly among the three muscles. However, in group B they were significantly greater in OO and frontalis than in mentalis. In between-group comparison, group B muscles had significantly higher CMAP ratios, lower degree of fibrillation, and better functional recovery. CONCLUSION: In facial palsy, the presence and grade of fibrillation in OO are lower than in frontalis and mentalis muscles and prognosis is more favorable for the non-fibrillating OO group of patients. 相似文献
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Sebastian Bonner Thomas Matte Mitchell Rubin Joanne K Fagan Jennifer Ahern David Evans 《The Journal of asthma》2006,43(1):31-35
Although studies have documented underuse of controller medications and overuse of short-acting inhaled ss(2)-agonist among children with persistent asthma in disadvantaged communities, the persistence of oral ss(2)-agonist use in pediatric practice has not been studied since inhaled short-acting ss(2)-agonists became widespread. We describe medications used to treat asthma among children 3 to 5 years of age at 10 Head Start and other subsidized preschool centers in East and Central Harlem, New York City. We interviewed 149 parents/guardians of children who were identified as having probable asthma based on physician's diagnosis, persistent symptoms, hospitalization, and medication use. We classified 86 of the 149 children (58%) as having current persistent asthma. Only 15 of them (17%) were reported to have used controller medications at least 5 days/week in the last 4 weeks-only 2 of whom used inhaled corticosteroids. By contrast, 53 children (62%) used oral ss(2)-agonist in the last 4 weeks, often (72%) in conjunction with nebulized or inhaled short-acting ss(2)-agonist. Use of oral ss(2)-agonist was associated with more severe symptoms. This study documents the continued widespread use of oral ss(2)-agonist for treatment of children in a low-income community with high prevalence of asthma. 相似文献
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F. Furlan R. Santer E. Vismara F. Santus G. Sersale F. Menni R. Parini 《Journal of inherited metabolic disease》2006,29(5):685
Summary A patient with early bilateral nuclear cataracts and subsequent diagnosis of Fanconi–Bickel syndrome is described. Despite
impaired galactose and glucose metabolism, cataracts have been reported in only few cases with this disorder. We conclude
that Fanconi–Bickel syndrome should be considered in the differential diagnosis of neonatal cataracts. The pathogenesis of
this complication has not been fully elucidated.
Electronic supplementary material Supplementary material is available for this article at 相似文献