Résumé
PURPOSE: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations in 2 Korean families with myoclonic epilepsy with ragged-red fibers (MERRF) and Leigh syndrome, respectively. MATERIALS AND METHODS: Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing (NGS). RESULTS: Two causative mtDNA mutations were identified from the NGS data. An m.8344A>G mutation in the tRNA-Lys gene (MT-TK ) was detected in a MERRF patient (family ID: MT132), and an m.9176T>C (p.Leu217Pro) mutation in the mitochondrial ATP6 gene (MT-ATP6) was detected in a Leigh syndrome patient (family ID: MT130). Both mutations, which have been reported several times before in affected individuals, were not found in the control samples. CONCLUSION: This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.
Sujets)
Humains , Classification , Diagnostic , ADN mitochondrial , Maladie de Leigh , Syndrome MERRF , Maladies mitochondriales , PhénotypeRésumé
BACKGROUND: Epidural steroid injection (ESI) is one of the most common procedures for patients presenting low back pain and radiculopathy. However, there is no clear consensus on what constitutes appropriate steroid use for ESIs. To investigate optimal steroid injection methods for ESIs, surveys were sent to all academic pain centers and selected private practices in Korea via e-mail. METHODS: Among 173 pain centers which requested the public health insurance reimbursements for their ESIs and were enrolled in the Korean Pain Society, 122 completed questionnaires were returned, for a rate of 70.5%; also returned were surveys from 39 academic programs and 85 private practices with response rates of 83.0% and 65.9%, respectively. RESULTS: More than half (55%) of Korean pain physicians used dexamethasone for ESIs. The minimum interval of subsequent ESIs at the academic institutions (3.1 weeks) and the private practices (2.1 weeks) were statistically different (P = 0.01). CONCLUSIONS: Although there was a wide range of variation, there were no significant differences between the academic institutions and the private practices in terms of the types and single doses of steroids for ESIs, the annual dose of steroids, or the limitations of doses in the event of diabetes, with the exception of the minimum interval before the subsequent ESI.
Sujets)
Humains , Consensus , Dexaméthasone , Courrier électronique , Assurance , Corée , Lombalgie , Centres antidouleur , Pratique professionnelle privée , Santé publique , Enquêtes et questionnaires , Radiculopathie , Stéroïdes , TriamcinoloneRésumé
Chylopericardium is a very rare, yet potentially fatal, complication following intrathoracic surgery, and can further lead to other life-threatening complications such as cardiac tamponade. A 54-year-old female underwent right upper lobectomy for lung cancer. Chylothorax developed on the 2nd postoperative day, and was managed conservatively with dietary modification. On the 9th postoperative day, the patient suddenly developed hypotension and severe cardiac dysfunction requiring cardiopulmonary resuscitation followed by VA ECMO. Transthoracic echocardiography revealed a large amount of pericardial effusion. Prompt pericardiocentesis was performed and the aspirated fluid showed features of chyle. Thoracic duct ligation with pericardial window operation was performed because the daily amount of chyle drained did not decrease after 3 weeks. Here, we review etiologies and therapeutic options of chylopericardial tamponade following intrathoracic surgery, which should not be underestimated even when the patient seems to demonstrate a good recovery.