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1/30. cochlear implantation for symptomatic hereditary deafness.

    Recently, the effectiveness of cochlear implantation for hereditary deafness has been reported. We performed cochlear implantation for two patients with symptomatic hereditary deafness. deafness in one patient was thought to be a result of albinism-deafness syndrome and in the other patient, a result of chronic progressive external ophthalmoplegia syndrome. Since their speech perception abilities improved dramatically, we believe that cochlear implantation should be actively performed for these two syndromes.
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ranking = 1
keywords = chronic progressive
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2/30. mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure.

    We report on 3 siblings (2 females and 1 male) with chronic progressive external ophthalmoplegia (CPEO), compatible with inherited mitochondrial cytopathy. The younger of the two sisters died at the age of 37 due to progressive respiratory failure. The older one presented with a status epilepticus at the age of 39 and was treated with valproate. Five months after the start of treatment, she developed fulminant liver failure and died. The brother has suffered from CPEO since early childhood but has had so far no other symptoms of a mitochondrial disease. A muscle biopsy from the younger sister revealed ragged-red fibers and decreased activities of complex I and IV of the respiratory chain but no pathogenic mutations in the mitochondrial tRNA genes or in several locations in the coding region of the mitochondrial genome. In the older sister's liver (obtained post-mortem), mitochondrial dna was fragmented and could not be investigated. The clinical presentation and the biochemical findings suggest that all 3 siblings suffered from a mitochondrial cytopathy. Since mitochondrial cytopathies and valproate-induced fulminant liver failure are both rare events, an association between them is likely. mitochondrial diseases should therefore be considered as a risk factor for valproate-induced liver failure and be excluded before treatment with valproate.
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ranking = 1
keywords = chronic progressive
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3/30. Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia.

    PURPOSE: To report chronic exposure keratopathy related to surgical ptosis correction in patients with chronic, progressive, external ophthalmoplegia. methods: case reports of three patients with chronic exposure keratopathy following blepharoptosis surgery. RESULTS: We report three patients with chronic progressive external ophthalmoplegia with chronic corneal complications after surgical ptosis repair. All three gave a history of blepharoptosis and extraocular muscle dysfunction. Each presented with chronic corneal ulceration. All had histories suggestive of ophthalmoplegia. Treatment of corneal ulceration necessitated hospitalization and surgical intervention. CONCLUSION: patients with chronic, progressive, external ophthalmoplegia have little ability to properly protect the eye from exposure and are at risk for corneal damage. A thorough ophthalmic history and examination before ptosis surgery may prevent the corneal complications resulting from surgical intervention.
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ranking = 4
keywords = chronic progressive
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4/30. Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia.

    Extraocular muscles are primarily involved in many mitochondrial diseases, but no reports exist regarding the morphological appearance of the muscles in cases of long-standing ocular myopathies. For this reason, muscle samples obtained from surgery in a sporadic case of chronic progressive external ophthalmoplegia (CPEO) were used for ultrastructural investigation and molecular analysis of mitochondrial dna. genetic testing revealed a heteroplasmic macrodeletion of about 5.0 kilobases in length, localized between the 9570- and 14619-base pair regions. Electron microscopy revealed focal areas of both disruption and abnormality of mitochondria in only some of the muscle fibers, producing "selective vacuolization." This ultrastructural pattern was highly selective and limited to some extraocular muscle fibers, sparing all the others. The "selective damage" observed in this case of CPEO resembles that case occurring in another mitochondrial disease, Leber hereditary optic neuropathy, where damage occurs only in the papillomacular bundle of the retina, sparing peripheral axons. It is possible that some anatomical and physiological factors play a leading role in both Leber hereditary optic neuropathy and ocular myopathies. The ultrastructural aspect herein observed needs to be further investigated to better understand whether a particular muscle fiber type is the target of mitochondrial impairment in CPEO.
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ranking = 5
keywords = chronic progressive
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5/30. Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia.

    OBJECTIVE: To detect the gene defect of mitochondrial dna (mtDNA) from skeletal muscles in 2 patients with chronic progressive external ophthalmoplegia (CPEO). methods: After extraction of mtDNA, Southern hybridization was performed after restrictive digestion by Pvu II, EcoRI, Hind III, and Sacl. Then, we carried out polymerase chain reaction (PCR) and the enzyme digestion of the PCR products. Finally, mtDNA sequencing was done by automatic dna sequence analyzer. RESULTS: In case 1, a 5 kb deletion was found by Southern blot analysis and PCR. And dosage analysis showed a heteroplasmic change with 44% mtDNAs deleted. In case 2, PCR plus restriction endonuclease Pvu II digestion demonstrated a mutation which was confirmed by dna sequencing to be a single base substitution (T-->C) inducing a novel Pvu II site around 10,909 on mtDNA sequence. The laser image analyzer measurement revealed the mutation was almost homologous (99.4% mutant). CONCLUSIONS: In case 1, a 5 kb deletion found in mtDNA is called "common deletion" according to the literature. In case 2, a novel Pvu II site was found. It seems to be a de novo point mutation affecting ND4 in published CPEO research and is first reported in Chinese population. This point mutation does not induce an amino acid(Phe) change according to the published human mitochondrial genetic code as well as the mtDNA sequence. Whether it affects the translation efficiency or transportation of signals between mitochondrial and nuclear genome needs further studies.
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ranking = 5
keywords = chronic progressive
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6/30. A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.

    We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy. The mutation is heteroplasmic and disrupts a highly conserved A-U base pair within the anticodon stem of the tRNA(Ala). Cytochrome c oxidase-negative fibers harbor a significantly higher level of mutated mtDNA than cytochrome c oxidase-positive fibers. This is the first mutation in the tRNA(Ala) gene which satisfies accepted criteria for pathogenicity.
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ranking = 1
keywords = chronic progressive
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7/30. Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.

    BACKGROUND: Chronic Progressive External ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so. CASE REPORT: We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.
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ranking = 4
keywords = chronic progressive
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8/30. Mitochondrial damage in patients with long-term corticosteroid therapy: development of oculoskeletal symptoms similar to mitochondrial disease.

    Two patients with long-term corticosteroid administration sporadically developed limb muscle wasting followed by ophthalmoplegia, and the skeletal muscle pathology revealed ragged-red fibers (RRFs) with abnormal mitochondria, in addition to the findings of corticosteroid myopathy. The oculoskeletal symptoms of the present cases resemble those of chronic progressive external ophthalmoplegia, a type of mitochondrial disease. The ocular muscles have more RRFs than limb muscles, and large multiple deletions of mitochondrial dna was detected in ocular and limb muscles of the two patients by PCR but not by Southern blotting. immunohistochemistry demonstrated that 8-hydroxy-deoxyguanosine (8-OH-dG) and 4-hydroxy-2-nonenal were intensely stained in skeletal muscles of these patients particularly in RRFs. High-performance liquid chromatography with electrochemical detection analysis revealed an increase in 8-OH-dG from mitochondrial dna. These findings may suggest that long-term corticosteroid administration potentially induces oxidative stress-mediated mitochondrial damage, resulting in the development of the oculoskeletal symptoms in some patients.
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ranking = 1
keywords = chronic progressive
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9/30. Bilateral spontaneous corneal perforation associated with complete external ophthalmoplegia in mitochondrial myopathy (kearns-sayre syndrome).

    PURPOSE: Mutations of mitochondrial dna can lead to a variety of pheno- and genotypically heterogeneous diseases. kearns-sayre syndrome is caused by the deletion of several mitochondrial genes. The syndrome is characterized by chronic progressive external ophthalmoplegia, tapetoretinal degeneration, and severe generalized myopathy. CASE REPORT: We report on a 36-year-old female patient with kearns-sayre syndrome, confirmed by biochemistry, histology, and genetics. Over a period of 10 years, progressive ophthalmoplegia led to recurrent conjunctivitis, keratitis, and corneal ulceration. Almost total external ophthalmoplegia including involvement of the orbicularis oculi muscles was observed. Despite advanced ptosis, there was lagophthalmos of 2 mm with near complete extinction of globe motility in both eyes. The left eye showed a peripheral corneal perforation parallel to the lower limbus. After successful penetrating keratoplasty in the left eye, despite preventive measures, a peripheral corneal perforation also occurred in the right eye. Penetrating keratoplasty was therefore also performed on the right eye. To achieve a satisfactory functional result, large-diameter transplants were necessary in both eyes. To prevent immune reactions, cyclosporine therapy was initiated prophylactically. Sixteen and 9 months after penetrating keratoplasty, the corrected visual acuity was 20/60 in the right eye and 20/100 in the left eye, with clear transplants on both sides. DISCUSSION: patients with progressive ophthalmoplegia require thorough neurologic investigation and evaluation. Lagophthalmos in the presence of almost absent globe motility requires extensive preventive measures to avoid exposure keratitis. In spite of this, in the presented case, corneal perforation of the second eye could not be prevented.
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ranking = 1
keywords = chronic progressive
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10/30. Classical mitochondrial phenotypes without mtDNA mutations: the possible role of nuclear genes.

    The authors analyzed the total mitochondrial (mt) genome in 15 patients with classic mitochondrial phenotypes. Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified. Total automated mtDNA genome analysis did not reveal other pathogenic mtDNA mutations. The authors conclude that classic mitochondrial phenotypes, including those with adult onset, may occur in the absence of mtDNA mutations. Nuclear gene mutations may be the cause.
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ranking = 1
keywords = chronic progressive
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