Insulinresistance, commonly associated with polycystic ovarian syndrome (PCOS), raises many unresolved debates about its prevalence, mechanism and true pathological role. Low insulin sensibility may have multiple origins among them genetic molecular defects in pathways of cellular insulin effects. A weight gain and android distribution of fat mass may reveal or increase insulin resistance and hyperinsulinemia. The preexisting unbalanced ovarian steroidogenesis secondary to abnormalities in gene coding for enzymes of P450C17 alpha might be the necessary support facilitating the stimulatory effect of hyperinsulinemia or other factors (LH, IGF1) on ovarian androgens. In practice, the phycisian has to know how to evaluate and to treat insulin resistance in view of its implication in dysovulation and, later on, metabolic and cardiovascular risks. Nutritional education and regular physical exercice are the necessary approaches. The efficacy and indications of metformin and thiazolidinediones have to be further evaluated.

Lynch Syndrom (or Hereditary Non-polyposic Colorectal Cancer (HNPCC)) can be described as the presence of an autosomic dominant mutation predisposing to early colorectal cancer. Suggestive familial history and young patient with colorectal cancer should undergo thorough investigation. In Switzerland, investigation will first attempt to show microsatellites instability in fumoral cells, then mutation in blood. If positive, direct progeny and family should be tested. Those who are mutation free may be followed as normal population. The others should have more frequent colorectal and gynecologic follow-up. Surgical treatment will attempt to prevent synchrone or metachrone colorectal cancer by total colectomy. Preventive colectomy is attractive but controversial.

The aim of this study was to assess the feasibility and success of multidisciplinary approach for the management of hereditary colorectal cancer.

Genetic studies are interesting not only in the diagnosis and screening of new cases within a family harboring a particular disease, but also in understanding the underlying genetic and molecular factors related to that disease. Such studies revealed 3 categories of cerebral arteriovenous malformations in relationship to possible genetic factors. The first one concerns cerebral arteriovenous malformations in relationship to inherited diseases where a genetic support is clearly identified. Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) represents the most classical picture. The second category corresponds to familial cases of cerebral arteriovenous malformations were several members and relatives of the same family harboring the pathology without clear demonstration of any genetic basis. The third category includes cerebral arteriovenous malformations described in association with neurocutaneous disorders issued from maldevelopment events. Sturge-Weber disease and Wyburn-Mason syndrome best illustrate this category. A review of these categories will help in a better understanding of some genetic issues related to cerebral arteriovenous malformations.

The antioncogene p53 has been the subject of many studies in the field of bladder cancer, for many years and there appears to be a good correlation between p53 protein overexpression and pejorative clinicopathological factors, but contradictory results have been reported concerning its prognostic value. These discordances can be partly explained by the various immunohistochemical methods used in published series. Standardization of a highly sensitive and specific immunohistochemical method for the detection of p53 alterations now appears to be essential in order to accurately determine the value of p53 in the clinical management of bladder cancer.

We report the case of a 13-year-old girl who developed a craniopharyngioma and a gyrate atrophy. No genetic link between these two diseases has ever been reported. This case recalls the characteristic features of gyrate atrophy.

Xeroderma pigmentosum is a rare genodermatosis, with a defect affecting recovery of ultraviolet-induced damages and characterized by a high rate of malignancies of the exposed skin areas. We studied melanoma features of patients with xeroderma pigmentosum.

The considerable progress of molecular biology within the past twenty years has permitted a more and more detailed characterization of the molecular mechanisms regulating cell proliferation. The corollary to these discoveries has been the identification of different deregulations yielding to cell transformation and cancer. The goal of this review is to present new therapeutic tools that stemmed from the now well understood logic underlying cell transformation. These tools, based on the intimate understanding of signalization pathways, aim at restoring the molecular controls which had been abrogated during the process of cell transformation. We present a survey of these new proposed therapeutic strategies. These new approaches will probably allow the clinician, in the near future, to combine traditional therapies with more targeted ones, and thus to limit side effects often associated with classical cancer therapies, while improving the overall effect of the treatment.