Simulation and Calibration of Passive Houses in Trondheim

This master thesis has aim to calibrate building energy simulation model of the passive houses by using energy bills, documentation and occupant survey

Pearson Syndrome Associated with Hemophagocytic Syndrome in a Child

Wo

Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy

Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, time of onset before 3 months of age, and suppression-burst (SB) pattern in EEG are accepted as the diagnostic criteria for EME. We report a 40-day-old infant with the diagnosis of non-ketotic hyperglycinemia (NKHG). The infant developed myoclonic and focal tonic seizures on the first day of life. His first sleep EEG recorded after onset of seizure was normal. Because of the diagnosis of NKHG and early developed myoclonic seizure, we thought the infant might be EME, and repeated sleep EEG on admission in which asymmetrical SB pattern was seen. We concluded that the absence of SB pattern in the first EEG recording does not exclude the diagnosis of EME, but repetition of EEG is necessary to demonstrate the presence of SB pattern to meet the diagnostic criteria for EME

A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings

42nd Annual Symposium of the SSIEM -- SEP, 2005 -- Anaheim, FRANCEDursun, Ali/0000-0003-1104-9902WOS: 000249018900018PubMed: 17206456Here we report a newborn with VLCAD deficiency with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia. The patient was also homozygous for a new missense mutation (R456H). Postmortem examination of the liver, heart and skeletal muscle revealed diffuse lipid accumulation in various amounts. Mild lobular and portal fibrosis as well as severe macrovesicular steatosis were also found in the liver. The fatal course of the patient may have resulted from diffuse lipid accumulation in the liver and myocardium, which probably began during the intrauterine life with slight hypoalbuminemia as a silent marker of this process.SSIE

Reduction of isolated zygomatic arch fractures using dental instrument: Report of 2 cases and review of the literature.

To assess the effectiveness of a dental instrument for reduction of isolated zygomatic arch fractures. Two patients were admitted to our clinic representing isolated unilateral zygomatic arch fracture. The common presenting complaints were pain, swelling and difficulty in mouth opening. Fractures were confirmed with plain radiography and computerized tomography. The fractures were reduced with upper buccal sulcus approach by dental instrument. Patients achieved satisfactory maximum mouth opening within 10 days. At follow up after 6 months, there was complete healing without any complication. This procedure is cost effective, time saving, safe and effective to manage isolated zygomatic arch fractures under local anaesthesia with satisfactory outcomes

Two New Cases with Pearson Syndrome and Review of Hacettepe Experience

SUMMARY: Topaloğlu R, Lebre AS, Demirkaya E, Kuşkonmaz B, Coşkun T, Orhan D, Gürgey A, Gümrük F. Two new cases with Pearson syndrome and review of Hacettepe experience. Turk J Pediatr 2008; 50: 572-576. Pearson syndrome (PS) is a mitochondrial disease and clinical presentation is rather varied. These patients are often subjected to extensive biochemical and clinical work-up for diagnosis. We report two new cases and review our experience with PS in Hacettepe University. The first case had large deletion of mitochondrial DNA (mtDNA) and presented with severe metabolic acidosis and anemia associated with hemophagocytosis in bone marrow. He also had liver involvement and tubulopathy. The second case, who had the 4997 bp common deletion, presented with anemia at 8 weeks of age followed by an uneventful 4 years. She developed very severe acidosis and renal Fanconi syndrome at the age of 4.5 years. Our cases revealed once more the clinical diversity of the disease and no correlation between the size and site of mtDNA deletion and clinical presentation. We encourage physicians to look for PS in children with early sideroblastic anemia and multiple organ system involvementWo

Molecular characterisation of biotinidase gene mutations in Turkish patients; an update of the results

WOS: 00030751310048