46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.

Spiritualité, pratiques religieuses et schizophrénie: mise au point pour le praticien

Dans la schizophrénie, la religion a surtout été étudiée sous son aspect pathologique. Or, de nombreux patients s'appuient sur leurs ressources spirituelles pour faire face à leur maladie. Nous avons développé une grille d'entretien pour évaluer les relations entre spiritualité, pratiques religieuses et coping. Cet instrument a démontré que la religion a des effets positifs pour 71% et négatifs pour 14% des 115 patients évalués. La religion influence l'image de soi, les symptômes, l'adaptation psychosociale, la toxicomanie, les tentatives de suicide et l'adhérence au traitement. Elle devrait donc être systématiquement évaluée par le praticien. Notre instrument a démontré une bonne fidélité inter-juge et une validité théorique. Il ne nécessite pas de formation préalable. C'est pourquoi, nous le mettons à disposition des praticiens.

Inaugural adress: The concept of biostratigraphy: the view point of a stratigrapher

Colleagues, Ladies and Gentlemen. My presence here is due to accidental circumstances and I must confess that I feel a little embarassed by the fact Both your scientific quality and the worlwide acceptance of the results achieved by you in your research fields make me prudent and, to a certain extent, cautious.

Instructions pour aides-opérateurs des laboratoires de surveillance bactériologique des eaux au point de vue des cultures et recherches quantitatives de bactéries et bacilles coli. [Lettres de MM. Charles Todd et Danysz.]

Comprend : Lettre

Hysteresis and return-point memory in deterministic cellular automata

We have investigated hysteresis and the return-point memory (RPM) property in deterministic cellular automata with avalanche dynamics. The RPM property reflects a partial ordering of metastable states, preserved by the dynamics. Recently, Sethna et al. [Phys. Rev. Lett. 70, 3347 (1993)] proved this behavior for a homogeneously driven system with static disorder. This Letter shows that the partial ordering and the RPM can be displayed as well by systems driven heterogeneously, as a result of its own evolution dynamics. In particular, we prove the RPM property for a deterministic 2D sandpile automaton driven at a central site.