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ABSTRACT: BACKGROUND: MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of liver, skeletal- and heart muscle as well as brain. In anabolism, neither clinical symptoms nor biochemical signs of organ dysfunction occur. CASE PRESENTATION: We report a female patient with MCAD-deficiency in whom at the age of 11 years isolated AST-elevation was found without any clinical or biochemical signs of organ dysfunction. We showed by polyethylene glycol precipitation that macro-AST formation was responsible for this biochemical finding. AST was probably complexed with immunoglobulins possibly related to an allergic disposition. Macro-AST formation is not a special feature of MCAD-deficiency but rather a non-specific, coincidental finding which also occurs in healthy individuals. The general practitioner consulted by the patient before coming to our outpatient clinic for inborn errors of metabolism was worried that isolated AST-elevation indicated cell damage in MCAD-deficiency. He ordered further diagnostic tests like ultrasound, ECG and echocardiography without any pathology. CONCLUSION: In isolated AST-elevation, macro-AST has to be considered in order to avoid unnecessary, costly and invasive evaluation. This is not only true for healthy persons but for patients with chronic diseases like MCAD as well. 相似文献
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Strzalkowska A. Strzalkowski P. Al Yousef Y. Grehn F. Hillenkamp J. Loewen Nils A. 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2021,259(4):963-970
Graefe's Archive for Clinical and Experimental Ophthalmology - We used exact matching for a highly balanced comparison of ab interno trabeculectomy (AIT) with the trabectome to trabeculectomy... 相似文献
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Nils Habbe Volker Fendrich Anna Heverhagen Annette Ramaswamy Detlef K. Bartsch 《Surgery today》2013,43(10):1168-1174
Purpose
Neuroendocrine tumors (NET) of the ileum/jejunum are rare and may require different treatment options to provide long-term survival. The purpose of the study was to evaluate the outcome of surgery for ileojejunal NET.Methods
A database of patients that underwent surgery for ileojejunal NETs between 1999 and 2010 was retrospectively analyzed regarding the clinical characteristics, surgical therapy, survival and prognostic factors.Results
Only six of 97 patients with ileojejunal NET who underwent surgery had localized tumors (stage I/II), 29 had lymph node involvement (stage III) and 62 had distant metastases (stage IV) at the initial presentation. All stage I/II tumors were cured, in comparison to 69 % of stage III and 0 % of stage IV tumors (p = 0.01). Palliative surgery in combination with sequential multimodal treatment regimens resulted in a 5-year survival rate of 63 % in patients with stage IV tumors. A multivariate analysis showed that incomplete resection (HR 2.87; CI 1.18–6.98; p = 0.04) and distant metastases (HR 5.39; 95 % CI 1.23–23.57; p = 0.02) were associated with worse disease-specific survival.Conclusions
Localized and regionally restricted ileojejunal NETs have an excellent prognosis after surgical treatment. Although stage IV tumors cannot be cured, an aggressive surgical approach in combination with medical or interventional treatment can provide long-term survival. 相似文献108.
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10 patients with major instability symptoms due to an acute anterior cruciate ligament injury were operated on with a bone-patellar tendon-bone reconstruction. Tibial condyle bone mineral density (BMD), bone ingrowth and changes in diameter in the tibia bone tunnel were studied with quantified computed tomography (QCT) postoperatively and after 1, 3, 6 and 12 months. We found no sign of bone ingrowth in the form of increased bone mineral density (BMD) in the bone tunnels in any of the patients. The tunnel diameter increased in all patients during the first postoperative months. After 1 year, 5 patients had a smaller diameter than at the first postoperative examination, 2 had the same diameter as immediately after surgery and 2 patients had a larger diameter. A sclerotic zone developed in all patients along the perimeter of the tunnel during the 3-6 months of follow-up. The BMD in the tibial condyle decreased at 3 months; it then increased, but between 6 and 12 months, it levelled out and was slightly lower than postoperatively. In conclusion, we found no growth of bone into the tunnel and tendinous part of the graft during the first postoperative year. 相似文献