Focal hyperperfusion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

2001 ◽  
Vol 94 (1) ◽  
pp. 133-136 ◽  
Author(s):  
Kenichi Amagasaki ◽  
Tsuneo Shimizu ◽  
Yoko Suzuki ◽  
Toshiyuki Kakizawa
Keyword(s):  
Lactic Acidosis ◽  
Genetic Analysis ◽  
Mitochondrial Myopathy ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Metabolic Dysfunction ◽  
Nucleotide Pair ◽  
Content Type ◽  
Typical Point ◽  
Fine Print

✓ 28-year-old woman presented with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The diagnosis was based on the results of molecular genetic analysis, which indicated a typical point mutation at the nucleotide pair 3243. Xenon computerized tomography scans obtained during the strokelike episodes revealed the lesion responsible for the symptoms to be an area of focal hyperperfusion, and scans obtained after the episodes revealed an area of hypoperfusion. Pathogenesis of the strokelike episodes appears to be metabolic dysfunction, although the involvement of a vascular event cannot be excluded.

scholarly journals Actinoplanes Swims into the Molecular Age

2017 ◽  
Vol 199 (12) ◽  
Author(s):  
Mark J. Buttner
Keyword(s):  
Life Cycle ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Survival Strategy ◽  
Evolutionary Perspective ◽  
Content Type ◽  
Link Type

ABSTRACT The survival strategy of Actinoplanes is fascinating from an evolutionary perspective, combining a short motile phase in an otherwise nonmotile, filamentous life cycle and the somewhat paradoxical concept of spores—normally thought of as a resting stage—that swim. In the first paper to report a molecular genetic analysis of development in Actinoplanes, the authors identify a key regulator of the entry into development (Y. Mouri, K. Konishi, A. Fujita, T. Tezuka, Y. Ohnishi, J Bacteriol 199:e00840-16, 2017, https://doi.org/10.1128/JB.00840-16 ).

Diffuse leptomeningeal involvement by a ganglioglioma in a child

1992 ◽  
Vol 77 (2) ◽  
pp. 302-306 ◽  
Author(s):  
Margaret R. Wacker ◽  
Philip H. Cogen ◽  
Joan E. Etzell ◽  
Laleh Daneshvar ◽  
Richard L. Davis ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Dna Sequences ◽  
Tumor Tissue ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Content Type ◽  
Leptomeningeal Involvement ◽  
Brain And Spinal Cord ◽  
The Brain ◽  
Fine Print

✓ Gangliogliomas are tumors composed of neuronal and glial elements that typically grow slowly by expansion only. This report describes a 20-month-old girl with a ganglioglioma that extensively involved the subarachnoid space; microscopic foci of tumor were found in the brain and spinal cord. Despite chemotherapy and radiation therapy, the child died 5 months after diagnosis. Molecular genetic analysis showed loss of chromosome 17p DNA sequences in the tumor tissue.

Use of fluorescence in situ hybridization to detect loss of chromosome 10 in astrocytomas

1995 ◽  
Vol 83 (2) ◽  
pp. 316-323 ◽  
Author(s):  
Stephen J. Dalrymple ◽  
John F. Herath ◽  
Steven R. Ritland ◽  
Cheryl A. Moertel ◽  
Robert B. Jenkins
Keyword(s):  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Fish Analysis ◽  
Chromosome 10 ◽  
Content Type ◽  
Valuable Adjunct ◽  
Length Polymorphisms ◽  
Grade Ii ◽  
Fine Print

✓ Models describing progression in the genetic derangement of glial tumors have shown loss of chromosome 10 to occur most frequently in high-grade lesions, suggesting that identification of this loss may be prognostically significant. Fluorescence in situ hybridization (FISH) analysis may be a valuable adjunct to histological grading if it can accurately detect this loss. In this paper the authors correlate results obtained from FISH, cytogenetic, molecular genetic, and flow cytometric analyses of a series of 39 brain specimens, including seven normal, two gliotic, and 30 neoplastic (one Grade II, one Grade III, and 28 Grade IV astrocytoma) specimens. Contiguous section of freshly resected surgical tissue were submitted for tissue culturing (karyotype) and touch preparation (FISH), snap-frozen (molecular genetic), or paraffin-embedded (histology and flow cytometry). Centromere-specific probes for chromosomes 10 and 12 were used for FISH analysis, and 19 restriction fragment length polymorphisms (two p-arm and 17 q-arm) and four microsatellite sequence polymorphisms (three p-arm and one q-arm) were used for molecular genetic analysis of chromosome 10. Findings showed FISH and loss of heterozygosity (LOH) analyses to be concordant in 33 of 38 specimens (sensitivity 94%, specificity 81%), with one specimen indeterminate on LOH analysis. Both FISH and LOH analyses were more sensitive at detecting chromosome 10 loss than conventional cytogenetic (karyotype) analysis. The authors conclude that FISH is a sensitive test for detecting chromosome 10 loss and ploidy in astrocytic tumors.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene
Sign in / Sign up

Export Citation Format

Share Document