Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.

Cavernous angiomas are vascular malformations mostly located in the central nervous system and characterized by enlarged capillary cavities without intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and focal neurological deficits. Cavernous angiomas prevalence is close to 0.5% in the general population. They may be inherited as an autosomal dominant condition in as much as 50% of cases. Cerebral cavernous malformations (CCM) loci were previously identified on 7q, 7p and 3q (refs 4,5). A strong founder effect was observed in the Hispano-American population, all families being linked to CCM1 on 7q (refs 4,7). CCM1 locus assignment was refined to a 4-cM interval bracketed by D7S2410 and D7S689 (ref. 8). Here we report a physical and transcriptional map of this interval and that CCM1, a gene whose protein product, KRIT1, interacts with RAP1A (also known as KREV1; ref. 9), a member of the RAS family of GTPases, is mutated in CCM1 families. Our data suggest the involvement of the RAP1A signal transduction pathway in vasculogenesis or angiogenesis.

[Breast cancer and Axillary Reverse Mapping]. / Cancer du sein et Axillary Reverse Mapping Pigment d'un tatouage décoratif au niveau d'un ganglion axillaire non sentinelle.

We report a case of T1N0 left breast cancer in a 47-year-old woman. Histopathological examination of a non sentinel axillary lymph node showed a pigmentation due to a decorative tattoo of the arm. The authors discuss a new concept: Axillary Reverse Mapping.

Multidetector computed tomography sizing of aortic annulus prior to transcatheter aortic valve replacement (TAVR): Variability and impact of observer experience.

PURPOSE: To evaluate intra- and inter-observer variability of multidetector computed tomography (MDCT) sizing of the aortic annulus before transcatheter aortic valve replacement (TAVR) and the effect of observer experience, aortic valve calcification and image quality. METHODS: MDCT examinations of 52 consecutive patients with tricuspid aortic valve (30 women, 22 men) with a mean age of 83±7 (SD) years (range: 64-93 years) were evaluated retrospectively. The maximum and minimum diameters, area and circumference of the aortic annulus were measured twice at diastole and systole with a standardized approach by three independent observers with different levels of experience (expert [observer 1]; resident with intensive 6 months practice [observer 2]; trained resident with starting experience [observer 3]). Observers were requested to recommend the valve prosthesis size. Calcification volume of the aortic valve and signal to noise ratio were evaluated. RESULTS: Intra- and inter-observer reproducibility was excellent for all aortic annulus dimensions, with an intraclass correlation coefficient ranging respectively from 0.84 to 0.98 and from 0.82 to 0.97. Agreement for selection of prosthesis size was almost perfect between the two most experienced observers (k=0.82) and substantial with the inexperienced observer (k=0.67). Aortic valve calcification did not influence intra-observer reproducibility. Image quality influenced reproducibility of the inexperienced observer. CONCLUSION: Intra- and inter-observer variability of aortic annulus sizing by MDCT is low. Nevertheless, the less experienced observer showed lower reliability suggesting a learning curve.

[Pneumocystis pneumonia in two breast cancer patients treated with docetaxel: an unusual adverse event of chemotherapy]. / Deux observations de pneumocystose chez des patientes traitées par docétaxel pour un cancer du sein : une complication inhabituelle de la chimiothérapie.

We report two cases of pneumocystis pneumonia in patients receiving chemotherapy for breast cancer. These case series emphasize the frailty of the patients as the causative role for occurrence of this uncommon complication of chemotherapy in breast cancer. We remind the importance of screening for unusual adverse events in frail patients receiving chemotherapy.

[A pelvic "blue" node. What's your diagnosis?]. / Un ganglion pelvien "bleu". Quel est votre diagnostic?

We report a case of 31-year-old woman presented with a chronic pelvic pain and a 3-cm left ovarian cyst on ultrasonography. At the time of laparoscopy, we observed two blue peritoneal lesions at the pelvic insertion of left round ligament. Histopathological examination of a biopsy showed a pigmentation due to a decorative tattoo of the left thigh.