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- Antonarakis, S. E., et al.
(författare)
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Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
- 1995
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
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Tidskriftsartikel (refereegranskat)abstract
- Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells ware observed among 225 cases (≃ 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
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- Garwicz, Martin, et al.
(författare)
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Functional organization of the intermediate cerebellum.
- 1995
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Ingår i: Alpha and Gamma Motor Systems. - Boston, MA : Springer US. - 9780306451867 - 9781461519355 ; , s. 399-402
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Konferensbidrag (refereegranskat)abstract
- The uniform organisation of the neuronal circuitry throughout the cerebellar cortex suggests a uniform mode of operation and thus emphasises the importance of local afferent and efferent connections in determining the function of a particular part of the cortex. Based on the organisation of these connections the cerebellar cortex of the cat is divided into about ten sagittally oriented zones (see Ito, 1984 for references). A zone is anatomically defined by its projection to a restricted part of the intracerebellar or vestibular nuclei and its climbing fibre input from a circumscribed part of the inferior olive. Some of the zones are functionally coupled in that they receive branching collaterals from common olivary neurones and in turn project to the same subdivision of the intracerebellar nuclei. Since each part of the inferior olive receives input from a specific set of spino-olivary pathways, the zones can be electrophysiologically identified by the latencies and receptive fields of climbing fibre responses evoked on peripheral stimulation. The organisation of olivary afferent and nuclear efferent connections suggests that each zone, or in some cases an ensemble of zones, controls specific motor systems.
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