OBJECTIVE Our aim was to describe a child with an incomplete form of Kearns-Sayre syndrome who presented profound cerebrospinal fluid (CSF) folate deficiency and his response to folinic acid supplementation METHODS CSF 5-methyltetrahydrofolate was analyzed by HPLC with fluorescence detection and mitochondrial DNA deletions by southern blot hybridization. RESULTS Cranial magnetic resonance i...

Background Chronic progressive external ophtalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) belong to the broad heterogeneous group of mitochondrial myopathies (MM) a group of neuromuscular disorders resulting from primary dysfunction of the mitochondrial chain with impaired cellular energy metabolism. Recently, a potentially characteristic myocardial fibrosis pattern with intramural late gad...

We designed and engineered mitochondrially targeted obligate heterodimeric zinc finger nucleases (mtZFNs) for site-specific elimination of pathogenic human mitochondrial DNA (mtDNA). We used mtZFNs to target and cleave mtDNA harbouring the m.8993T>G point mutation associated with neuropathy, ataxia, retinitis pigmentosa (NARP) and the "common deletion" (CD), a 4977-bp repeat-flanked deletion as...

The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Example...

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Introduction: The Kearns-Sayre syndrome (KSS) belongs to the group of mitochondrial diseases. Cells that require more energy intake, such as muscle, nerve, retinal and cochlear, are most commonly affected. The established diagnostic criteria are: 1) the age of onset before 20 years old (100%), 2) progressive external ophthalmoplegia (100%), 3) pigmentary retinopathy (100%), and 4) at least one ...

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The purpose of this study was to compare the clinical effects of patelloplasty and traditional patellar management in total knee arthroplasty (TKA) for osteoarthritis. A total of 152 patients with osteoarthritis treated with TKA between January 2004 and December 2005 were retrospectively studied. The patients were randomly divided into 2 groups: the patelloplasty group (group A; n=76) and the t...

The ACORN system was originally developed as a means of ab initio solution of protein structures when atomic resolution data were available. The first step is to obtain a starting set of phases, which must be at least slightly better than random. These may be calculated from a fragment of the structure, which can be anything from a single metal atom to a complete molecular-replacement model. A ...