PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 14743651

Mitochondrial encephalopathy.

Nicola Longo
View original source ↗Export metadata ↓

Abstract

Mitochondrial disorders cause a wide spectrum of diseases in children. Their presentation is nonspecific with encephalomyopathy, failure to thrive, seizures, ophthalmoplegia, and sensorineural hearing loss. These disorders are progressive and are aggravated by fever and infections. They can be caused by mutations in nDNA or mtDNA. Diagnosis requires a complex battery of clinical studies coupled with diagnostic findings on muscle biopsy (abnormal structure, histochemistry, or enzyme studies) or DNA testing. Therapy for mitochondrial disorders remains largely ineffective.

Explore related subjects

BiopsyBrainDNA, MitochondrialHumansMagnetic Resonance ImagingMitochondrial EncephalomyopathiesMuscle, SkeletalJournal ArticleResearch Support, U.S. Gov't, P.H.S.Review

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Nicola Longo. 2003. Mitochondrial encephalopathy.. https://doi.org/10.1016/s0733-8619(03)00015-x

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↗