No abstract available.
Mitochondrial Diseases*

No abstract available.
Mitochondrial Diseases*

Humans ; Mitochondrial Diseases/therapy* ; DNA, Mitochondrial/genetics*

DQA, a patient specific quality assurance in tomotherapy, is usually performed using an ion chamber and a film. The result of DQA is analysed with the treatment planning system called Tomo Planning Station (TomoPS). The two-dimensional dose distribution of film measurement is compared with the dose distribution calculated by TomoPS using the gamma-index analysis. In gamma-index analysis, the criteria such as 3%/3 mm is used and we verify that whether the rate of number of points which pass the criteria (pass rate) is within tolerance. TomoPS does not provide any quantitative information regarding the pass rate. In this work, a method to get the pass rate of the gamma-index analysis was suggested and a software PassRT which calculates the pass rate was developed. The results of patient specific QA of the intensity modulated radiation therapy measured with I'mRT MatriXX (IBA Dosimetry, Germany) and DQA of tomotherapy measured with film were used to verify the proposed method. The pass rate was calculated using PassRT and compared with the pass rate calculated by OmniPro I'mRT (IBA Dosimetry, Germany). The average difference between the two pass rates was 0.00% for the MatriXX measurement. The standard deviation and the maximum difference were 0.02% and 0.02%, respectively. For the film measurement, average difference, standard deviation and maximum difference were 0.00%, 0.02% and 0.02%, respectively. For regions of interest smaller than 24.3x16.6 cm2 the proposed method can be used to calculate the pass rate of the gamma index analysis to one decimal place and will be helpful for the more accurate DQA in tomotherapy.
Humans ; Hypogonadism ; Mitochondrial Diseases ; Ophthalmoplegia

Child ; Humans ; Liver Diseases ; Mitochondrial Diseases

Humans ; Mitochondrial Diseases/prevention & control* ; DNA, Mitochondrial/genetics*

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive, the main possibilities are thus far thought to be mitochondrial cytopathy and angiopathy. This case report describes a 61-year-old woman diagnosed with MELAS who presented simultaneously with vascular hyperemia and crossed cerebellar diaschisis.
Acidosis, Lactic ; Female ; Humans ; Hyperemia ; Kearns-Sayre Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Seizures

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive, the main possibilities are thus far thought to be mitochondrial cytopathy and angiopathy. This case report describes a 61-year-old woman diagnosed with MELAS who presented simultaneously with vascular hyperemia and crossed cerebellar diaschisis.
Acidosis, Lactic ; Female ; Humans ; Hyperemia ; Kearns-Sayre Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Seizures

Mitochondrial encephalomyopathies are genetic defects affecting the mitochondrial respiratory chain. This case report describes the anesthetic considerations for a patient with mitochondrial disease undergoing renal transplantation. Special risk such as malignant hyperthermia as well as plausible anesthetic technique are addressed. This is the case of a 36 year old female previously diagnosed to have end stage renal disease secondary to chronic glomerulonephritis and mitochondrial disease who presented for renal transplantation. Anesthetic technique was general endotracheal anesthesia under total intravenous anesthesia. To avoid a life threatening sequelae associated with mitochondrial diseases, vigilance towards possible complications was undertaken.
Human ; Female ; Adult ; MITOCHONDRIAL ENCEPHALOMYOPATHIES ; KIDNEY TRANSPLANTATION ; KIDNEY FAILURE, CHRONIC ; MITOCHONDRIAL MYOPATHIES ; MITOCHONDRIAL DISEASES

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the classic mitochondrial diseases characterized by symptoms of repeated episodes of hemiparesis with mitochondrial DNA mutation. We report a rare case of early onset MELAS patient confirmed by genetic analysis with Wolff-Parkinson-White syndrome.
Acidosis, Lactic ; DNA, Mitochondrial ; Humans ; MELAS Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Paresis ; Wolff-Parkinson-White Syndrome