Familial mongolism by a G/G mosaic carrier

Waxman, Sorrell H.; Arakaki, D. T.

doi:10.1016/s0022-3476(66)80331-1

Cited by 16 publications

(12 citation statements)

References 18 publications

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“…[Although bretylium has other actions, e.g., prominent autonomic effects (27), these are unlikely to have been important in the isolated, denervated preparations used in this study. Also, previous studies have concluded that bretylium's antifibrillatory action is unrelated to its autonomic actions (28,29).] Thus, our results indicate that for normal swine right ventricular tissue, dynamic heterogeneity caused by cardiac restitution properties is more important than fixed electrophysiological and anatomical heterogeneities in the genesis and maintenance of VF.…”

Section: Discussionsupporting

confidence: 62%

“…But Gilmour's group (13) recently reported that the drugs verapamil (at high concentrations) and diacetyl monoxime, which flatten APD restitution by different mechanisms than does bretylium, also prevented VF in the normal canine left ventricle. And, as noted earlier, bretylium has been shown to abolish VF in both normal and diseased hearts (27)(28)(29)(30).…”

Section: Discussionsupporting

confidence: 53%

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Preventing ventricular fibrillation by flattening cardiac restitution

Garfinkel

Kim

Voroshilovsky

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

496

418

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Ventricular fibrillation is the leading cause of sudden cardiac death. In fibrillation, fragmented electrical waves meander erratically through the heart muscle, creating disordered and ineffective contraction. Theoretical and computer studies, as well as recent experimental evidence, have suggested that fibrillation is created and sustained by the property of restitution of the cardiac action potential duration (that is, its dependence on the previous diastolic interval). The restitution hypothesis states that steeply sloped restitution curves create unstable wave propagation that results in wave break, the event that is necessary for fibrillation. Here we present experimental evidence supporting this idea. In particular, we identify the action of the drug bretylium as a prototype for the future development of effective restitution-based antifibrillatory agents. We show that bretylium acts in accord with the restitution hypothesis: by flattening restitution curves, it prevents wave break and thus prevents fibrillation. It even converts existing fibrillation, either to a periodic state (ventricular tachycardia, which is much more easily controlled) or to quiescent healthy tissue.

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Section: Discussionsupporting

confidence: 62%

Section: Discussionsupporting

confidence: 53%

Preventing ventricular fibrillation by flattening cardiac restitution

Garfinkel

Kim

Voroshilovsky

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

496

418

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“…1,2 To the best of our knowledge mosaicism with a normal cell line and a der(21;21)(q10;q10) in a second cell line has been described in the literature in 17 cases. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] Most of them were ascertained by extensive cytogenetic investigations in the parents performed after the birth of a child with trisomy 21 due to der(21;21)(q10;q10) in all cells. In none of them were origin and formation investigated by molecular methods.…”

Section: Introductionmentioning

confidence: 99%

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Kotzot

Schinzel

2000

Eur J Hum Genet

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Mosaicism for a derivative 21, der(21;21)(q10;q10), is a rare chromosomal abnormality. Since a normal cell line is present, mitotic origin is considered. Chromosome examination of a female with developmental delay and dysmorphic features compatible with mosaic trisomy 21 revealed a normal cell line and a second cell line with a der(21;21)(q10;q10) [46,XX/46,XX,der(21;21)(q10;q10), + 21]. Molecular investigation with a panel of highly polymorphic microsatellites mapping to chromosome 21 demonstrated three different alleles, two of paternal and one of maternal origin. Therefore, either formation of the der(21;21)(q10;q10) during paternal meiosis with subsequent loss of the der(21;21)(q10;q10) and mitotic reduplication of the maternal homologue in the normal cell line, or more likely a zygote with paternally derived trisomy 21 and subsequent mitotic formation of the der(21;21)(q10;q10) have to be considered. This case again shows that mammalian chromosome aberrations may have a more complex mechanism of formation than was previously thought.

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“…Both parents had normal karyotypes in their peripheral lymphocytes, but no other tissue was examined. Waxman and Arakaki (1966) also reported familial occurrence of G/G translocation. The mother had a normal karyotype in all ofher peripheral lymphocytes examined and a 46,XX/46,XX,+F,-G karyotype in 8 out of 27 cells from her skin.…”

mentioning

confidence: 95%