Macro-AST: misleading finding in an adolescent with MCAD-deficiency

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.     

Exact matching of trabectome-mediated ab interno trabeculectomy to conventional trabeculectomy with mitomycin C followed for 2 years

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...     

No bone ingrowth into the tibia tunnel in anterior cruciate ligament-reconstructed patients: A 1-year prospective quantified CT study of 10 patients reconstructed with an autologous bone-patellar tendon-bone graft

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.     

Changes in biochemical markers of bone metabolism and BMD during the first year after a hip fracture

We measured the levels of biochemical markers of bone formation and bone resorption in hip fracture patients preoperatively and after 6 and 12 months. Bone densitometry was done with quantitative computer tomography (QCT), dual-energy X-ray absorptiometry (DXA) and heel ultrasound. After 6 months, the biochemical markers of bone formation and bone resorption had increased. The levels remained high after 1 year and no change occurred between 6 and 12 months. We found no correlations between biochemical bone markers and bone density/ stiffness on admission and change in bone mineral density (BMD) during the first postoperative year, despite the changes in bone markers and bone density. In our opinion, biochemical bone markers can not be used to predict bone loss in the individual patient after a hip fracture.