PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 1467585

Mitochondrial encephalomyopathies.

B Eymard·J J Hauw
View original source ↗Export metadata ↓

Abstract

Molecular genetic studies are now bringing a new classification and new insights into already recognized mitochondrial encephalomyopathies. There are, however, numerous reports on an overlap pattern between mitochondriopathies. In addition, the link between the defect in oxidative phosphorylation (OXPHOS) in the brain and the specific neuropathological pattern is unclear. A better knowledge of nuclear mutations in mitochondriopathies and of the interactions between nuclear and mitochondrial genomes will probably allow new developments.

Explore related subjects

BiopsyBrainDNA, MitochondrialHumansLeigh DiseaseMELAS SyndromeMERRF SyndromeMitochondrial EncephalomyopathiesMusclesMutationOphthalmoplegia, Chronic Progressive ExternalOptic Atrophies, HereditaryOxidative PhosphorylationJournal ArticleResearch Support, Non-U.S. Gov'tReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

B Eymard, J J Hauw. 1992. Mitochondrial encephalomyopathies.. https://pubmed.ncbi.nlm.nih.gov/1467585/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

Non-radical diagnostic biopsies do not negatively influence melanoma patient survival.

BACKGROUND: In fair-skinned Caucasian populations both the incidence and mortality rates of cutaneous melanoma have been increasing over the past decades. With adjuvant therapies still being under investigation, early detection is the only way to improve melanoma patient survival. The influence of incisional biopsies on melanoma patient survival has been discussed for many years. This study investigates both the influence of diagnostic biopsy type and the presence of residual tumor cells in the re-excision specimen on disease free and overall survival. METHODS: After (partial) removal of a pigmented skin lesion 471 patients were diagnosed with stage I/II melanoma and underwent re-excision and a sentinel node biopsy. All patients were followed prospectively, mean follow up >5 years. Patients were divided according to their diagnostic biopsy type (wide excision biopsy, narrow excision biopsy, excision biopsy with positive margins and incisional biopsy) and the presence of residual tumor cells in their re-excision specimen. Survival analysis was done using Cox's proportional hazard model adjusted for eight important confounders of melanoma patient survival. RESULTS: The diagnostic biopsy was wide in 279 patients, narrow in 109 patients, 52 patients underwent an excision biopsy with positive margins and 31 patients an incisional biopsy. In 41 patients residual tumor cells were present in the re-excision specimen. Both the diagnostic biopsy type and the presence of tumor cells in the re-excision specimen did not influence disease free and overall survival of melanoma patients. CONCLUSIONS: Non-radical diagnostic biopsies do not negatively influence melanoma patient survival.

Biopsy↗