Ärztliche Fehleroffenbarung – Strafrechtliche Strategien für postinvasive Arzt-Patientengespräche

Ohne Zusammenfassung     

Involvement of the catecholamine mechanisms in the activation of mouse hypophyseotesticular complex induced by the female presence effect

We have studied the role of the adrenergic and dopaminergic mechanisms in the activation of the endocrine testicular function of CBA/Lac and A/He male mice induced by the presence of a female in estrus without any tactile contact with a male. The-adrenoreceptor blocker phentolamine inhibited an increase in the peripheral blood plasma testosterone level caused by the receptive female challenge. Propranolol blockade of -adrenoreceptors abruptly increased the stimulating effect of the receptive female presence on the blood testosterone level. The expression of the adrenoblocker action on the blood male sex hormone level depended on a male genotype. The dopamine receptor blocker pimozide produced a moderate effect on the blood testosterone but an attempt to separate its influence into the male sex hormone tonic secretion and the blood testosterone level against a background of sexual activation failed. It was concluded that the adrenergic mechanisms were involved in the activation of the hypothalamo-hypophyseotesticular complex induced by the presence of the receptive female.Translated from Problemy Éndokrinologii, Vol. 32, No. 6, pp. 55–59, November–December, 1986.     

Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities

An RNA-binding motif (RBM) gene family has been identified on the human Y chromosome that maps to the same deletion interval as the 'azoospermia factor' (AZF). We have identified the homologous gene family (Rbm) on the mouse Y with a view to investigating the proposal that this gene family plays a role in spermatogenesis. At least 25 and probably >50 copies of Rbm are present on the mouse Y chromosome short arm located between Sry and the centromere. As in the human, a role in spermatogenesis is indicated by a germ cell-specific pattern of expression in the testis, but there are distinct differences in the pattern of expression between the two species. Mice carrying the deletion Yd1, that maps to the proximal Y short arm, are female due to a position effect resulting in non-expression of Sry ; sex-reversing such mice with an Sry transgene produces males with a high incidence of abnormal sperm, making this the third deletion interval on the mouse Y that affects some aspect of spermatogenesis. Most of the copies of Rbm map to this deletion interval, and the Yd1males have markedly reduced Rbm expression, suggesting that RBM deficiency may be responsible for, or contribute to, the abnormal sperm development. In man, deletion of the functional copies of RBM is associated with meiotic arrest rather than sperm anomalies; however, the different effects of deletion are consistent with the differences in expression between the two species.      

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD) locus of the X chromosome has duplicated to specific locations near the pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11. Comparative sequence analysis reveals 92-96% nucleotide identity, indicating that the autosomal ALD paralogs arose relatively recently during the course of higher primate evolution (5-10 million years ago). Analysis of sequences flanking the duplication region identifies the presence of an unusual GCTTTTTGC repeat which may be a sequence-specific integration site for the process of pericentromeric- directed transposition. The breakpoint sequence and phylogenetic analysis predict a two-step transposition model, in which a duplication from Xq28 to pericentromeric 2p11 occurred once, followed by a rapid distribution of a larger duplicon cassette among the pericentromeric regions. In addition to facilitating more effective mutation detection among ALD patients, these findings provide further insight into the molecular basis underlying a pericentromeric-directed mechanism for non- homologous interchromosomal exchange.